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	X1000Genome_AA	X1000Genome_AC	X1000Genome_AF	X1000Genome_AFR_AF	X1000Genome_AMR_AF	X1000Genome_AN	X1000Genome_ASN_AF	X1000Genome_AVGPOST	X1000Genome_CIEND	X1000Genome_CIPOS	X1000Genome_END	X1000Genome_ERATE	X1000Genome_EUR_AF	X1000Genome_HOMLEN	X1000Genome_HOMSEQ	X1000Genome_LDAF	X1000Genome_RSQ	X1000Genome_SNPSOURCE	X1000Genome_SVLEN	X1000Genome_SVTYPE	X1000Genome_THETA	X1000Genome_VT	ACHILLES_Lineage_Results_Top_Genes	CGC_Cancer.Germline.Mut	CGC_Cancer.Molecular.Genetics	CGC_Cancer.Somatic.Mut	CGC_Cancer.Syndrome	CGC_Chr	CGC_Chr.Band	CGC_GeneID	CGC_Name	CGC_Other.Germline.Mut	CGC_Tissue.Type	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	COSMIC_overlapping_primary_sites	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	ESP_AA	ESP_AAC	ESP_AA_AC	ESP_AA_AGE	ESP_AA_GTC	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_CA	ESP_CDP	ESP_CG	ESP_CP	ESP_Chromosome	ESP_DBSNP	ESP_DP	ESP_EA_AC	ESP_EA_AGE	ESP_EA_GTC	ESP_EXOME_CHIP	ESP_FG	ESP_GL	ESP_GM	ESP_GS	ESP_GTC	ESP_GTS	ESP_GWAS_PUBMED	ESP_MAF	ESP_PH	ESP_PP	ESP_Position	ESP_TAC	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	HGNC_Accession.Numbers	HGNC_CCDS.IDs	HGNC_Chromosome	HGNC_Date.Modified	HGNC_Date.Name.Changed	HGNC_Date.Symbol.Changed	HGNC_Ensembl.Gene.ID	HGNC_Ensembl.ID.supplied.by.Ensembl.	HGNC_Entrez.Gene.ID	HGNC_Entrez.Gene.ID.supplied.by.NCBI.	HGNC_Enzyme.IDs	HGNC_Gene.family.description	HGNC_HGNC.ID	HGNC_Locus.Group	HGNC_Locus.Type	HGNC_Name.Synonyms	HGNC_OMIM.ID.supplied.by.NCBI.	HGNC_Previous.Names	HGNC_Previous.Symbols	HGNC_Primary.IDs	HGNC_Pubmed.IDs	HGNC_Record.Type	HGNC_RefSeq.IDs	HGNC_RefSeq.supplied.by.NCBI.	HGNC_Secondary.IDs	HGNC_Status	HGNC_Synonyms	HGNC_UCSC.ID.supplied.by.UCSC.	HGNC_UniProt.ID.supplied.by.UniProt.	HGNC_VEGA.IDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	ORegAnno_bin	UniProt_alt_uniprot_accessions	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP.._NR	dbNSFP_GERP.._RS	dbNSFP_GERP.._RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_fold.degenerate	dbNSFP_genename	dbNSFP_hg18_pos.1.coor.	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_id	gene_type	havana_transcript	secondary_variant_classification	strand	transcript_id	variant_classification	variant_type	key	t_ref_count	t_alt_count
ACOX2	8309	broad.mit.edu	37	3	58514557	58514558	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:58514557_58514558delAG	ENST00000459701.2	-	9	1331_1332	c.1076_1077delCT	c.(1075-1077)actfs	p.T359fs	ACOX2_ENST00000302819.5_Frame_Shift_Del_p.T373fs			Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	373					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			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)		TCAGAATGGCAGTGTAGGAGTG	0.55		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	8309	8309	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		NA	8943006, 9070889	Standard		NM_003500	NA	Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000459701.2:c.1076_1077delCT	3.37:g.58514557_58514558delAG	ENSP00000418562:p.Thr359fs	NA	A6NF16|B2R8U5	37																																																																																				ACOX2-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353542.2		-	ENST00000459701.2	Frame_Shift_Del	DEL	3 : 58514557 - 58514558 - PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	137	74
ADCY3	109	broad.mit.edu	37	2	25046089	25046089	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:25046089C>T	ENST00000405392.1	-	15	1812	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	ADCY3_ENST00000260600.5_Missense_Mutation_p.D958N			O60266	ADCY3_HUMAN	adenylate cyclase 3	958					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			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)					GAGTCAAAATCTGAGATGATT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	87	92			NA	NA	2		NA											NA				25046089		2203	4300	6503	SO:0001583	missense			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	109	109	4.6.1.1	Adenylate cyclases	234	protein-coding gene	gene with protein product		600291			NA	9920776	Standard		NM_004036	NA	Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000405392.1:c.1633G>A	2.37:g.25046089C>T	ENSP00000384484:p.Asp545Asn	NA	Q53T54|Q9UDB1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.541066	0.96474	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.81415	-1.49;-1.49	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.73217	2.22	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.937	D;D;P	0.97110	1.0;1.0;0.898	D	0.89800	0.3974	10	0.87932	D	0	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	959;958;545	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	958;545;933	ENSP00000260600:D958N;ENSP00000384484:D545N	ENSP00000260600:D958N	D	-	1	0	ADCY3	24899593	1.000000	0.71417	0.779000	0.31741	0.978000	0.69477	7.604000	0.82830	2.894000	0.99253	0.655000	0.94253	GAT	ADCY3-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			-	ENST00000405392.1	Missense_Mutation	SNP	2 : 25046089 - 25046089 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	134	10
AGAP7	0	broad.mit.edu	37	10	51465226	51465226	+	Silent	SNP	T	T	G	rs1047416		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:51465226T>G	ENST00000374095.5	-	7	1355	c.1230A>C	c.(1228-1230)gcA>gcC	p.A410A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		410	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGACCCATGCATCCCGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	24	22			NA	NA	10		NA											NA				51465226		2172	4242	6414	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000374095.5:c.1230A>C	10.37:g.51465226T>G		NA	A6NGH4	37	CCDS41524.1																																																																																			AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048033.1		-	ENST00000374095.5	Silent	SNP	10 : 51465226 - 51465226 G PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	768	8
ASTN1	460	broad.mit.edu	37	1	177133612	177133612	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:177133612G>A	ENST00000367657.3	-	1	391	c.201C>T	c.(199-201)ctC>ctT	p.L67L	ASTN1_ENST00000424564.2_Silent_p.L67L|ASTN1_ENST00000367654.3_Silent_p.L67L|ASTN1_ENST00000361833.2_Silent_p.L67L|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	67					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACCGAGAAGAGGAGCTTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	55	60			NA	NA	1		NA											NA				177133612		2203	4300	6503	SO:0001819	synonymous_variant			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.201C>T	1.37:g.177133612G>A		NA	O60799|Q5W0V7|Q5W0V8	37																																																																																				ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Silent	SNP	1 : 177133612 - 177133612 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	134	44
BRWD1	54014	broad.mit.edu	37	21	40578075	40578075	+	Silent	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:40578075C>T	ENST00000380800.3	-	37	4421	c.4323G>A	c.(4321-4323)cgG>cgA	p.R1441R	BRWD1_ENST00000333229.2_Silent_p.R1441R|BRWD1_ENST00000342449.3_Silent_p.R1441R			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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)				TACAATTTTGCCGTTGCTTGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													126	132	130			NA	NA	21		NA											NA				40578075		2203	4300	6503	SO:0001819	synonymous_variant			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.4323G>A	21.37:g.40578075C>T		NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	C	3.068	-0.191810	0.06299	.	.	ENSG00000185658	ENST00000424441	.	.	.	4.87	-0.148	0.13424	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30387	-0.9980	4	.	.	.	-0.1605	10.6113	0.45423	0.0:0.4846:0.0:0.5154	.	.	.	.	T	379	.	.	A	-	1	0	BRWD1	39499945	0.027000	0.19231	0.359000	0.25824	0.641000	0.38312	0.013000	0.13310	-0.364000	0.08088	0.561000	0.74099	GCA	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1		-	ENST00000380800.3	Silent	SNP	21 : 40578075 - 40578075 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	830	7
CDH23	64072	broad.mit.edu	37	10	73377113	73377113	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:73377113C>T	ENST00000224721.6	+	10	1117	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	CDH23_ENST00000398842.3_Missense_Mutation_p.A366V|CDH23_ENST00000461841.3_Missense_Mutation_p.A411V|CDH23_ENST00000398809.4_Missense_Mutation_p.A366V|CDH23_ENST00000299366.7_Missense_Mutation_p.A411V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	366	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			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						GTCGGCTTTGCCCTTCCACTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	10		NA											NA				73377113		2185	4280	6465	SO:0001583	missense			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		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	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1112C>T	10.37:g.73377113C>T	ENSP00000224721:p.Ala371Val	NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37		.	.	.	.	.	.	.	.	.	.	C	34	5.350184	0.95830	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.59638	0.72;0.25	5.15	5.15	0.70609	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.63510	0.2517	N	0.21448	0.665	0.80722	D	1	P;D;D	0.71674	0.726;0.997;0.998	B;D;D	0.80764	0.343;0.953;0.994	T	0.57642	-0.7776	10	0.19590	T	0.45	.	18.8328	0.92148	0.0:1.0:0.0:0.0	.	366;366;366	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	V	373;366;366;366;366;371;371;283	ENSP00000381789:A366V;ENSP00000381822:A366V	ENSP00000224721:A373V	A	+	2	0	CDH23	73047119	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.216000	0.77974	2.677000	0.91161	0.563000	0.77884	GCC	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Missense_Mutation	SNP	10 : 73377113 - 73377113 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	181	4
CFTR	1080	broad.mit.edu	37	7	117188877	117188877	+	Splice_Site	SNP	G	G	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr7:117188877G>T	ENST00000003084.6	+	10	1524	c.1392G>T	c.(1390-1392)aaG>aaT	p.K464N	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	464	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			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)|Glibenclamide(DB01016)	GAGCAGGCAAGGTAGTTCTTT	0.373		NA							Cystic Fibrosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM034784	CFTR	M							37	37	37			NA	NA	7		NA											NA				117188877		2203	4299	6502	SO:0001630	splice_region_variant	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626	1080	1080		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	NA	2772657	Standard	NM_000492	XM_006715842	NA	Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1392+1G>T	7.37:g.117188877G>T		NA	Q20BG8|Q20BH2|Q2I0A1|Q2I102	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527048	0.64860	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	D;D	0.98926	-5.24;-5.24	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97912	1.0309	10	0.87932	D	0	-17.2567	18.3148	0.90217	0.0:0.0:1.0:0.0	.	464	P13569	CFTR_HUMAN	N	464;434	ENSP00000003084:K464N;ENSP00000389119:K434N	ENSP00000003084:K464N	K	+	3	2	CFTR	116976113	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.920000	0.70017	2.395000	0.81488	0.650000	0.86243	AAG	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059397.3	Missense_Mutation	+	ENST00000003084.6	Splice_Site	SNP	7 : 117188877 - 117188877 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	199	5
CNTLN	54875	broad.mit.edu	37	9	17416086	17416086	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:17416086G>A	ENST00000380647.3	+	18	3097	c.3013G>A	c.(3013-3015)Gca>Aca	p.A1005T	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1005T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1005T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1005						centriole|membrane	two-component sensor activity			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)		CAAGAAAACAGCAGAATTGTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	84			NA	NA	9		NA											NA				17416086		1826	4079	5905	SO:0001583	missense			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459	54875	54875			23432	protein-coding gene	gene with protein product		611870	chromosome 9 open reading frame 101, chromosome 9 open reading frame 39	C9orf101, C9orf39	NA	18086554	Standard	NM_017738	XM_005251492	NA	Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3013G>A	9.37:g.17416086G>A	ENSP00000370021:p.Ala1005Thr	NA	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717140	0.48622	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.24151	1.87;1.87;2.13	4.98	4.06	0.47325	.	.	.	.	.	T	0.28433	0.0703	L	0.58669	1.825	0.36720	D	0.881143	P;P;P	0.46142	0.865;0.873;0.873	B;P;P	0.45681	0.301;0.49;0.49	T	0.11567	-1.0582	9	0.15952	T	0.53	.	12.2323	0.54495	0.0859:0.0:0.9141:0.0	.	1005;1005;1005	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	1005	ENSP00000370021:A1005T;ENSP00000392798:A1005T;ENSP00000262360:A1005T	ENSP00000262360:A1005T	A	+	1	0	CNTLN	17406086	0.986000	0.35501	0.975000	0.42487	0.988000	0.76386	2.929000	0.48916	2.459000	0.83118	0.467000	0.42956	GCA	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051793.3		+	ENST00000380647.3	Missense_Mutation	SNP	9 : 17416086 - 17416086 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	364	112
CPD	1362	broad.mit.edu	37	17	28772820	28772820	+	Silent	SNP	A	A	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:28772820A>G	ENST00000225719.4	+	12	2731	c.2655A>G	c.(2653-2655)aaA>aaG	p.K885K	CPD_ENST00000543464.2_Silent_p.K638K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	885	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAAAGGAAAAGGGGCTAGCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	17		NA											NA				28772820		2203	4300	6503	SO:0001819	synonymous_variant			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	1362	1362	3.4.17.22		2301	protein-coding gene	gene with protein product	metallocarboxypeptidase D	603102			NA	9628828, 9355738	Standard	NM_001304	NM_001304	NA	Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2655A>G	17.37:g.28772820A>G		NA	O15377|Q86SH9|Q86XE6	37	CCDS11257.1																																																																																			CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256214.3		+	ENST00000225719.4	Silent	SNP	17 : 28772820 - 28772820 G PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	266	4
EDEM2	55741	broad.mit.edu	37	20	33722547	33722547	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr20:33722547G>A	ENST00000374492.3	-	6	801	c.696C>T	c.(694-696)atC>atT	p.I232I	EDEM2_ENST00000540582.1_Silent_p.I191I|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Silent_p.I195I|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	232					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			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)			CTACCAGCCCGATATCTGACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(51;906 1021 24535 36410 39145)							NA				0													78	73	75			NA	NA	20		NA											NA				33722547		2203	4300	6503	SO:0001819	synonymous_variant			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298	55741	55741			15877	protein-coding gene	gene with protein product		610302	chromosome 20 open reading frame 31	C20orf49, C20orf31	NA	15537790, 15579471	Standard	NM_018217	NM_018217	NA	Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.696C>T	20.37:g.33722547G>A		NA	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	37	CCDS13247.1																																																																																			EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078842.2		-	ENST00000374492.3	Silent	SNP	20 : 33722547 - 33722547 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	302	18
EPPK1	83481	broad.mit.edu	37	8	144944616	144944616	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:144944616G>A	ENST00000525985.1	-	2	2877	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W				P58107	EPIPL_HUMAN	epiplakin 1	936						cytoplasm|cytoskeleton	protein binding|structural molecule activity			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)			GGCAGCAGCCGCACACCGCCC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4061		0,1,2030	11	14	13		2806	2	0.1	8		13	1,8323		0,1,4161	no	missense	EPPK1	NM_031308.1	101	0,2,6191	AA,AG,GG	NA	0.012,0.0246,0.0161	possibly-damaging	936/2420	144944616	2,12384	2031	4162	6193	SO:0001583	missense			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2806C>T	8.37:g.144944616G>A	ENSP00000436337:p.Arg936Trp	NA	Q76E58	37		.	.	.	.	.	.	.	.	.	.	G	8.620	0.891090	0.17613	2.46E-4	1.2E-4	ENSG00000227184	ENST00000525985	T	0.72505	-0.66	4.8	1.98	0.26296	.	.	.	.	.	T	0.50718	0.1632	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.45946	0.498	T	0.37888	-0.9686	9	0.35671	T	0.21	.	7.0541	0.25089	0.0834:0.0:0.6132:0.3034	.	936	E9PPU0	.	W	936	ENSP00000436337:R936W	ENSP00000436337:R936W	R	-	1	2	EPPK1	145016604	0.000000	0.05858	0.052000	0.19188	0.004000	0.04260	-0.526000	0.06207	0.223000	0.20920	-0.152000	0.13540	CGG	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Missense_Mutation	SNP	8 : 144944616 - 144944616 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	118	5
FAM104B	90736	broad.mit.edu	37	X	55172596	55172596	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:55172596C>G	ENST00000477847.2	-	3	393	c.260G>C	c.(259-261)gGt>gCt	p.G87A	FAM104B_ENST00000425133.2_Missense_Mutation_p.G91A|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000489298.1_Missense_Mutation_p.G89A|FAM104B_ENST00000332132.4_Intron	NM_001166702.1	NP_001160174.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGAGTAAAGACCTTGGCATGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	76	81			NA	NA	X		NA											NA				55172596		2203	4298	6501	SO:0001583	missense			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	90736	90736			25085	protein-coding gene	gene with protein product			chromosome X open reading frame 44	CXorf44	NA	12477932	Standard	NM_138362	NM_138362	NA	Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000477847.2:c.260G>C	X.37:g.55172596C>G	ENSP00000421161:p.Gly87Ala	NA	A6NEH1|Q8WVU5|Q9BRA1	37	CCDS55423.1	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812822	0.50527	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	T;T;T	0.52295	0.67;0.67;0.67	1.6	1.6	0.23607	.	.	.	.	.	T	0.51941	0.1704	L	0.34521	1.04	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.30060	-0.9991	9	0.62326	D	0.03	.	6.0913	0.19995	0.0:1.0:0.0:0.0	.	91	Q5XKR9-3	.	A	91;87;89	ENSP00000397188:G91A;ENSP00000421161:G87A;ENSP00000423164:G89A	ENSP00000397188:G91A	G	-	2	0	FAM104B	55189321	1.000000	0.71417	0.092000	0.20876	0.386000	0.30323	2.344000	0.44010	1.084000	0.41184	0.436000	0.28706	GGT	FAM104B-003	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056853.2		-	ENST00000477847.2	Missense_Mutation	SNP	X : 55172596 - 55172596 G PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	153	4
GLI2	2736	broad.mit.edu	37	2	121726395	121726395	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:121726395G>A	ENST00000452319.1	+	6	809	c.749G>A	c.(748-750)cGc>cAc	p.R250H	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R250H			P10070	GLI2_HUMAN	GLI family zinc finger 2	250					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				CGGATGATCCGCACCTCACCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	71	74			NA	NA	2		NA											NA				121726395		2203	4300	6503	SO:0001583	missense				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	2736	2736		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		NA	2850480, 9557682	Standard	NM_005270	NM_005270	NA	Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.749G>A	2.37:g.121726395G>A	ENSP00000390436:p.Arg250His	NA	O60252|O60253|O60254|O60255|Q15590|Q15591|Q4JHT4	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389944	0.95988	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.70631	-0.5;-0.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.88909	0.3358	10	0.87932	D	0	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	250;250	P10070;Q0VGA0	GLI2_HUMAN;.	H	250	ENSP00000390436:R250H;ENSP00000354586:R250H	ENSP00000354586:R250H	R	+	2	0	GLI2	121442865	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.601000	0.98297	2.557000	0.86248	0.655000	0.94253	CGC	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332293.3		+	ENST00000452319.1	Missense_Mutation	SNP	2 : 121726395 - 121726395 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	275	5
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		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)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	588	6
KMT2D	8085	broad.mit.edu	37	12	49440044	49440044	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:49440044G>A	ENST00000301067.7	-	16	4581	c.4582C>T	c.(4582-4584)Cgg>Tgg	p.R1528W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						TGTTCTCACCGTTCACAGTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	71	68			NA	NA	12		NA											NA				49440044		2166	4276	6442	SO:0001630	splice_region_variant			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	8085	8085		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	NA	9247308	Standard		NM_003482	NA	Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4583+1C>T	12.37:g.49440044G>A		NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630341	0.28978	.	.	ENSG00000167548	ENST00000301067	T	0.64991	-0.13	5.22	4.3	0.51218	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);	0.000000	0.35096	N	0.003457	T	0.79118	0.4392	M	0.82517	2.595	0.48696	D	0.999697	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	11.8112	0.52183	0.0:0.0:0.6812:0.3188	.	1528	O14686	MLL2_HUMAN	W	1528	ENSP00000301067:R1528W	ENSP00000301067:R1528W	R	-	1	2	MLL2	47726311	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.272000	0.51616	1.154000	0.42482	0.655000	0.94253	CGG	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2	Missense_Mutation	-	ENST00000301067.7	Splice_Site	SNP	12 : 49440044 - 49440044 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	195	4
LOXL2	4017	broad.mit.edu	37	8	23167297	23167297	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:23167297G>T	ENST00000389131.3	-	10	2133	c.1764C>A	c.(1762-1764)gaC>gaA	p.D588E		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	588	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			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)		CCGTGGTGGGGTCGGTCTGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	35	36			NA	NA	8		NA											NA				23167297		2203	4300	6503	SO:0001583	missense			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013	4017	4017			6666	protein-coding gene	gene with protein product		606663			NA	9722957	Standard		NM_002318	NA	Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1764C>A	8.37:g.23167297G>T	ENSP00000373783:p.Asp588Glu	NA	Q9BW70|Q9Y5Y8	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	7.565	0.665505	0.14710	.	.	ENSG00000134013	ENST00000389131	T	0.28255	1.62	5.67	2.67	0.31697	.	0.801532	0.11748	N	0.533294	T	0.22244	0.0536	L	0.31420	0.93	0.09310	N	0.999997	B;B	0.22080	0.064;0.002	B;B	0.27170	0.077;0.008	T	0.19289	-1.0310	10	0.33141	T	0.24	.	7.5746	0.27928	0.0762:0.1141:0.6818:0.1279	.	588;588	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	E	588	ENSP00000373783:D588E	ENSP00000373783:D588E	D	-	3	2	LOXL2	23223242	0.635000	0.27199	0.924000	0.36721	0.130000	0.20726	1.044000	0.30329	1.373000	0.46208	0.561000	0.74099	GAC	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375603.1		-	ENST00000389131.3	Missense_Mutation	SNP	8 : 23167297 - 23167297 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	165	8
LRP2BP	55805	broad.mit.edu	37	4	186298198	186298198	+	Translation_Start_Site	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr4:186298198C>T	ENST00000510776.1	-	1	1974	c.3G>A	c.(1-3)atG>atA	p.M1I	LRP2BP_ENST00000505916.1_Intron|LRP2BP_ENST00000328559.7_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Intron			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	0						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TAAGGAATTCCATCAACCACA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	4		NA											NA				186298198		2202	4300	6502	SO:0001582	initiator_codon_variant			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771	55805	55805			25434	protein-coding gene	gene with protein product					NA	10718198, 12508107	Standard	NM_018409	NM_018409	NA	Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000510776.1:c.3G>A	4.37:g.186298198C>T	ENSP00000424610:p.Met1Ile	NA	A6NJR7|A7E219|B3KX83|Q9NSN6	37		.	.	.	.	.	.	.	.	.	.	C	8.633	0.894030	0.17613	.	.	ENSG00000109771	ENST00000510776	T	0.40476	1.03	5.08	-1.25	0.09405	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24512	-1.0158	7	.	.	.	.	8.723	0.34452	0.0:0.3862:0.0:0.6138	.	1	G5E9Z9	.	I	1	ENSP00000424610:M1I	.	M	-	3	0	LRP2BP	186535192	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.015000	0.03637	-0.167000	0.10871	0.655000	0.94253	ATG	LRP2BP-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000360682.1	Missense_Mutation	-	ENST00000510776.1	Start_Codon_SNP	SNP	4 : 186298198 - 186298198 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	90	47
MUC16	94025	broad.mit.edu	37	19	9059381	9059381	+	Silent	SNP	G	G	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:9059381G>T	ENST00000397910.4	-	3	28268	c.28065C>A	c.(28063-28065)acC>acA	p.T9355T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9357	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						TTGTGAGGGGGGTAGAAATTC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	151	152			NA	NA	19		NA											NA				9059381		1929	4139	6068	SO:0001819	synonymous_variant			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28065C>A	19.37:g.9059381G>T		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1																																																																																			MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Silent	SNP	19 : 9059381 - 9059381 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	482	43
MYO18B	84700	broad.mit.edu	37	22	26219533	26219533	+	Silent	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr22:26219533C>T	ENST00000407587.2	+	13	2752	c.2583C>T	c.(2581-2583)tgC>tgT	p.C861C	MYO18B_ENST00000536101.1_Silent_p.C861C|MYO18B_ENST00000335473.7_Silent_p.C861C			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	861	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			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						CCCTGGGCTGCGAGTATGAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	122	122			NA	NA	22		NA											NA				26219533		2078	4209	6287	SO:0001819	synonymous_variant			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2583C>T	22.37:g.26219533C>T		NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37																																																																																				MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Silent	SNP	22 : 26219533 - 26219533 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	455	6
NPRL2	10641	broad.mit.edu	37	3	50385605	50385623	+	Frame_Shift_Del	DEL	CACGGTAGTGCCAGGGCTC	CACGGTAGTGCCAGGGCTC	-			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	CACGGTAGTGCCAGGGCTC	CACGGTAGTGCCAGGGCTC	-	-	CACGGTAGTGCCAGGGCTC	CACGGTAGTGCCAGGGCTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:50385605_50385623delCACGGTAGTGCCAGGGCTC	ENST00000232501.3	-	9	1302_1320	c.864_882delGAGCCCTGGCACTACCGTG	c.(862-882)ctgagccctggcactaccgtgfs	p.LSPGTTV288fs	NPRL2_ENST00000493465.1_Intron	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	288					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGT	0.598		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388	10641	10641			24969	protein-coding gene	gene with protein product		607072	tumor suppressor candidate 4	TUSC4	NA	11085536	Standard	NM_006545	NM_006545	NA	Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.864_882delGAGCCCTGGCACTACCGTG	3.37:g.50385605_50385623delCACGGTAGTGCCAGGGCTC	ENSP00000232501:p.Leu288fs	NA	A8K831|Q6FGS2|Q9Y249|Q9Y497	37	CCDS2826.1																																																																																			NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346299.1		-	ENST00000232501.3	Frame_Shift_Del	DEL	3 : 50385605 - 50385623 - PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	139	53
OR2G3	81469	broad.mit.edu	37	1	247769306	247769306	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:247769306T>A	ENST00000320002.2	+	1	451	c.419T>A	c.(418-420)cTt>cAt	p.L140H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			AACCCACGGCTTTGCCAACAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	169	173			NA	NA	1		NA											NA				247769306		2203	4300	6503	SO:0001583	missense			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476	81469	81469		GPCR / Class A : Olfactory receptors	15008	protein-coding gene	gene with protein product					NA		Standard		NM_001001914	NA	Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.419T>A	1.37:g.247769306T>A	ENSP00000326301:p.Leu140His	NA	B2RN64|Q5JQT1|Q6IF45	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	T	7.541	0.660612	0.14645	.	.	ENSG00000177476	ENST00000320002	T	0.00241	8.46	3.8	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.889887	0.08762	U	0.897639	T	0.00552	0.0018	M	0.82923	2.615	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.51244	-0.8730	10	0.72032	D	0.01	.	6.5239	0.22291	0.3928:0.0:0.0:0.6072	.	140	Q8NGZ4	OR2G3_HUMAN	H	140	ENSP00000326301:L140H	ENSP00000326301:L140H	L	+	2	0	OR2G3	245835929	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.165000	0.09968	0.605000	0.29947	-0.731000	0.03576	CTT	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097624.1		+	ENST00000320002.2	Missense_Mutation	SNP	1 : 247769306 - 247769306 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	619	134
POLR1A	25885	broad.mit.edu	37	2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:86272753C>T	ENST00000263857.6	-	20	3251	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	958					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			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						AGGTTTGATGCCGGTGAGGAA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	92	88			NA	NA	2		NA											NA				86272753		1909	4134	6043	SO:0001583	missense			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654	25885	25885		RNA polymerase subunits	17264	protein-coding gene	gene with protein product					NA	9236775	Standard	NM_015425	NM_015425	NA	Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2873G>A	2.37:g.86272753C>T	ENSP00000263857:p.Gly958Asp	NA	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036329	0.75617	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.94862	-3.54;-3.54	5.71	5.71	0.89125	RNA polymerase Rpb1, domain 5 (1);	0.053139	0.85682	D	0.000000	D	0.98422	0.9475	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99486	1.0949	10	0.87932	D	0	-25.7735	18.0404	0.89317	0.0:1.0:0.0:0.0	.	958	O95602	RPA1_HUMAN	D	958	ENSP00000263857:G958D;ENSP00000386300:G958D	ENSP00000263857:G958D	G	-	2	0	POLR1A	86126264	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.126000	0.77201	2.710000	0.92621	0.655000	0.94253	GGC	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329830.2		-	ENST00000263857.6	Missense_Mutation	SNP	2 : 86272753 - 86272753 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	429	6
PPP1R13B	23368	broad.mit.edu	37	14	104205286	104205286	+	Silent	SNP	C	C	T			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:104205286C>T	ENST00000202556.9	-	13	2949	c.2667G>A	c.(2665-2667)ctG>ctA	p.L889L	PPP1R13B_ENST00000423488.2_Silent_p.L308L|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	889					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			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)				GGAGCAGTGCCAGGGGGTTAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	112	109			NA	NA	14		NA											NA				104205286		2006	4184	6190	SO:0001819	synonymous_variant			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808	23368	23368		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		NA	9872452	Standard	NM_015316	NM_015316	NA	Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2667G>A	14.37:g.104205286C>T		NA	B2RMX5|O94870	37	CCDS41997.1																																																																																			PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414591.1		-	ENST00000202556.9	Silent	SNP	14 : 104205286 - 104205286 T PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	565	9
PTCH1	5727	broad.mit.edu	37	9	98242854	98242854	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:98242854G>A	ENST00000430669.2	-	6	1150	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	PTCH1_ENST00000331920.6_Missense_Mutation_p.R255W|PTCH1_ENST00000421141.1_Missense_Mutation_p.R104W|PTCH1_ENST00000418258.1_Missense_Mutation_p.R104W|PTCH1_ENST00000375274.2_Missense_Mutation_p.R254W|PTCH1_ENST00000429896.2_Missense_Mutation_p.R104W|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000437951.1_Missense_Mutation_p.R189W			Q13635	PTC1_HUMAN	patched 1	255					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			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)				TTTGTCCACCGCAAAGGAGGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	9		NA											NA				98242854		2203	4300	6503	SO:0001583	missense			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920	5727	5727			9585	protein-coding gene	gene with protein product		601309	patched (Drosophila) homolog, patched homolog (Drosophila), patched homolog 1 (Drosophila)	NBCCS, PTCH	NA	8658145	Standard	NM_000264	NM_001083603	NA	Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000430669.2:c.565C>T	9.37:g.98242854G>A	ENSP00000410287:p.Arg189Trp	NA	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	37	CCDS47996.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958524	0.74016	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.71;-2.71;-2.69;-2.69;-2.71;-2.69;-2.73;-2.14;-2.14;-2.14;-2.14	5.88	4.97	0.65823	.	0.273612	0.42294	D	0.000724	D	0.92698	0.7679	L	0.50333	1.59	0.36534	D	0.870929	D;D;D	0.64830	0.987;0.994;0.991	P;P;P	0.58520	0.663;0.84;0.462	D	0.95163	0.8283	10	0.87932	D	0	-10.3087	16.4495	0.83974	0.0:0.0:0.8676:0.1323	.	189;254;255	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	W	255;189;104;104;189;104;254;104;104;104;104	ENSP00000332353:R255W;ENSP00000389744:R189W;ENSP00000399981:R104W;ENSP00000396135:R104W;ENSP00000410287:R189W;ENSP00000414823:R104W;ENSP00000364423:R254W;ENSP00000447797:R104W;ENSP00000447008:R104W;ENSP00000447878:R104W;ENSP00000448843:R104W	ENSP00000332353:R255W	R	-	1	2	PTCH1	97282675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.317000	0.65822	1.471000	0.48121	0.655000	0.94253	CGG	PTCH1-003	KNOWN	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053231.2		-	ENST00000430669.2	Missense_Mutation	SNP	9 : 98242854 - 98242854 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	344	5
RUNX1T1	862	broad.mit.edu	37	8	92998452	92998452	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:92998452G>A	ENST00000523629.1	-	9	1633	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	RUNX1T1_ENST00000265814.3_Silent_p.I393I|RUNX1T1_ENST00000422361.2_Silent_p.I356I|RUNX1T1_ENST00000396218.1_Silent_p.I366I|RUNX1T1_ENST00000518844.1_Silent_p.I366I|RUNX1T1_ENST00000520724.1_Silent_p.I356I|RUNX1T1_ENST00000360348.2_Silent_p.I356I|RUNX1T1_ENST00000436581.2_Silent_p.I404I	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)	393					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TGTACCGCCGGATCCAGTAAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	122	122			NA	NA	8		NA											NA				92998452		2203	4300	6503	SO:0001819	synonymous_variant			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	862	862		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	NA	1391946, 9790752	Standard	NM_004349, NM_175635	NM_004349	NA	Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1179C>T	8.37:g.92998452G>A		NA	O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q92479|Q9BRZ0	37	CCDS6256.1																																																																																			RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377045.3		-	ENST00000523629.1	Silent	SNP	8 : 92998452 - 92998452 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	731	35
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916434	114916434	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr5:114916434G>A	ENST00000282382.4	-	4	1395	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	TICAM2_ENST00000427199.2_Missense_Mutation_p.R174W|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000408996.4_Missense_Mutation_p.R343W			Q86XR7	TCAM2_HUMAN	TMED7-TICAM2 readthrough	174					I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				NA						TTCAGGGGCCGCATGGGTATA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	83	81			NA	NA	5		NA											NA				114916434		2202	4300	6502	SO:0001583	missense				CCDS54887.1, CCDS54888.1	5q22.3	2010-05-12	2009-11-05		ENSG00000251201	ENSG00000251201	100302736	100302736			33945	other	readthrough					NA		Standard	NM_001164468	NM_001164468	NA	Approved		uc003kre.3		OTTHUMG00000162911	ENST00000282382.4:c.1027C>T	5.37:g.114916434G>A	ENSP00000282382:p.Arg343Trp	NA	B3Y698	37	CCDS54887.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101998	0.76983	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T;T	0.50548	0.74;0.74;0.74	5.92	3.94	0.45596	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.53938	D	0.000049	T	0.53916	0.1826	L	0.29908	0.895	0.33446	D	0.582977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.65084	-0.6254	10	0.52906	T	0.07	.	11.0018	0.47611	0.0:0.0:0.5283:0.4717	.	343;174	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	W	343;174;343	ENSP00000386341:R343W;ENSP00000415139:R174W;ENSP00000282382:R343W	ENSP00000415139:R174W	R	-	1	2	TICAM2;TMED7-TICAM2	114944333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.029000	0.41098	1.470000	0.48102	0.585000	0.79938	CGG	TMED7-TICAM2-001	PUTATIVE	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363128.1		-	ENST00000282382.4	Missense_Mutation	SNP	5 : 114916434 - 114916434 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	503	6
TRPM2	7226	broad.mit.edu	37	21	45798964	45798964	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:45798964G>A	ENST00000397932.2	+	8	1112	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	TRPM2_ENST00000397928.1_Missense_Mutation_p.A367T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A367T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A367T			O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	367						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			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						TGCCCAGGTGGCCAACCTGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	80	89			NA	NA	21		NA											NA				45798964		2203	4300	6503	SO:0001583	missense			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185	7226	7226		Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing	12339	protein-coding gene	gene with protein product		603749		TRPC7	NA	9806837, 11385575, 16382100	Standard	NM_003307	NR_038257	NA	Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397932.2:c.1099G>A	21.37:g.45798964G>A	ENSP00000381026:p.Ala367Thr	NA	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	37		.	.	.	.	.	.	.	.	.	.	G	11.86	1.765205	0.31228	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	3.84	2.94	0.34122	.	0.128055	0.52532	D	0.000070	T	0.56381	0.1981	M	0.72118	2.19	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	P;P	0.62885	0.908;0.758	T	0.54111	-0.8342	10	0.22706	T	0.39	-29.9005	12.5864	0.56421	0.0:0.0:0.8325:0.1675	.	367;367	E9PGK7;O94759	.;TRPM2_HUMAN	T	367	ENSP00000300482:A367T;ENSP00000381023:A367T;ENSP00000300481:A367T;ENSP00000381026:A367T	ENSP00000300481:A367T	A	+	1	0	TRPM2	44623392	1.000000	0.71417	0.955000	0.39395	0.174000	0.22865	5.782000	0.68973	0.799000	0.34018	0.563000	0.77884	GCC	TRPM2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339787.1		+	ENST00000397932.2	Missense_Mutation	SNP	21 : 45798964 - 45798964 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	273	5
VCL	7414	broad.mit.edu	37	10	75854102	75854102	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:75854102A>G	ENST00000372755.3	+	11	1520	c.1426A>G	c.(1426-1428)Aaa>Gaa	p.K476E	VCL_ENST00000211998.4_Missense_Mutation_p.K476E|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_003373.3	NP_003364.1	P18206	VINC_HUMAN	vinculin	476	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		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)					CCTGCAGACCAAAACCAACCG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	49	50			NA	NA	10		NA											NA				75854102		2203	4300	6503	SO:0001583	missense			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403	7414	7414			12665	protein-coding gene	gene with protein product	metavinculin	193065			NA	1339348	Standard	NM_003373, NM_014000	NM_014000	NA	Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000372755.3:c.1426A>G	10.37:g.75854102A>G	ENSP00000361841:p.Lys476Glu	NA	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	37	CCDS7340.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193805	0.78902	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36340	1.26;1.26;1.26	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.69823	2.125	0.80722	D	1	D;D;D	0.63880	0.993;0.983;0.959	D;P;P	0.74023	0.982;0.822;0.755	T	0.53711	-0.8400	10	0.08381	T	0.77	.	15.7613	0.78082	1.0:0.0:0.0:0.0	.	403;476;476	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	E	476;476;383;403;148	ENSP00000361841:K476E;ENSP00000211998:K476E;ENSP00000415489:K148E	ENSP00000211998:K476E	K	+	1	0	VCL	75524108	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.905000	0.92613	2.126000	0.65437	0.529000	0.55759	AAA	VCL-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048751.1		+	ENST00000372755.3	Missense_Mutation	SNP	10 : 75854102 - 75854102 G PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	176	13
ZNF778	197320	broad.mit.edu	37	16	89294760	89294760	+	Silent	SNP	G	G	A			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr16:89294760G>A	ENST00000433976.2	+	6	2312	c.1980G>A	c.(1978-1980)ctG>ctA	p.L660L	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.L618L	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTCTCACCTGCATAAACATG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	53			NA	NA	16		NA											NA				89294760		2175	4292	6467	SO:0001819	synonymous_variant			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100	197320	197320		Zinc fingers, C2H2-type, -	26479	protein-coding gene	gene with protein product					NA		Standard	NM_182531	NM_182531	NA	Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1980G>A	16.37:g.89294760G>A		NA	Q08AG0	37	CCDS45550.1																																																																																			ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430383.1		+	ENST00000433976.2	Silent	SNP	16 : 89294760 - 89294760 A PAAD-TCGA-3A-A9IO-Tumor-SM-5W7V4	130	4
