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
ADCY8	114	broad.mit.edu	37	8	131916097	131916097	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:131916097C>T	ENST00000286355.5	-	7	3924	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	611					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|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			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)			ACTGTTTCTCCGGTCTGAGGA	0.478		NA								HNSCC(32;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	93	97			NA	NA	8		NA											NA				131916097		2203	4300	6503	SO:0001583	missense			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	114	114	4.6.1.1	Adenylate cyclases	239	protein-coding gene	gene with protein product		103070		ADCY3	NA	8076676	Standard		NM_001115	NA	Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1832G>A	8.37:g.131916097C>T	ENSP00000286355:p.Arg611Gln	NA		37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	c	15.47	2.843171	0.51057	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.81247	-1.34;-1.37;-1.47	6.17	3.43	0.39272	.	0.333655	0.37136	N	0.002223	T	0.71685	0.3369	L	0.55213	1.73	0.22292	N	0.999227	B;B	0.14012	0.004;0.009	B;B	0.08055	0.002;0.003	T	0.54282	-0.8317	10	0.15952	T	0.53	.	8.9319	0.35675	0.0:0.743:0.1241:0.1329	.	611;611	E7EVL1;P40145	.;ADCY8_HUMAN	Q	611;611;226	ENSP00000286355:R611Q;ENSP00000367161:R611Q;ENSP00000428010:R226Q	ENSP00000286355:R611Q	R	-	2	0	ADCY8	131985279	1.000000	0.71417	0.984000	0.44739	0.292000	0.27327	1.969000	0.40510	0.945000	0.37605	-0.119000	0.15052	CGG	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380080.1		-	ENST00000286355.5	Missense_Mutation	SNP	8 : 131916097 - 131916097 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	365	48
ALAS2	212	broad.mit.edu	37	X	55042077	55042077	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:55042077G>A	ENST00000396198.3	-	8	1148	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	ALAS2_ENST00000330807.5_Missense_Mutation_p.R368W|ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	368					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAGCGCCCCGGGACCCATAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	74			NA	NA	X		NA											NA				55042077		2203	4300	6503	SO:0001583	missense				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	212	212	2.3.1.37		397	protein-coding gene	gene with protein product	sideroblastic/hypochromic anemia	301300	aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)	ASB	NA	1577484	Standard	NM_000032	NM_000032	NA	Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000396198.3:c.1063C>T	X.37:g.55042077G>A	ENSP00000379501:p.Arg355Trp	NA	Q13735	37	CCDS43960.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293539	0.60086	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95238	-3.65;-3.65;-3.65	5.75	2.8	0.32819	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);	0.169618	0.52532	D	0.000065	D	0.97561	0.9201	H	0.94658	3.565	0.32571	N	0.529787	D;D;D	0.76494	0.994;0.999;0.999	P;D;P	0.64144	0.875;0.922;0.875	D	0.98784	1.0733	10	0.87932	D	0	-12.041	13.6877	0.62526	0.0:0.0:0.6071:0.3929	.	331;355;368	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	W	368;355;331	ENSP00000332369:R368W;ENSP00000379501:R355W;ENSP00000337131:R331W	ENSP00000332369:R368W	R	-	1	2	ALAS2	55058802	0.446000	0.25665	0.975000	0.42487	0.674000	0.39518	2.674000	0.46867	0.654000	0.30846	0.594000	0.82650	CGG	ALAS2-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056844.2		-	ENST00000396198.3	Missense_Mutation	SNP	X : 55042077 - 55042077 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	275	10
ANKAR	150709	broad.mit.edu	37	2	190603299	190603299	+	Silent	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190603299A>G	ENST00000520309.1	+	19	3679	c.3591A>G	c.(3589-3591)gtA>gtG	p.V1197V	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V|ANKAR_ENST00000313581.4_Silent_p.V1197V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1197						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGATTGTTGTACTGGCTAAAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	149	149			NA	NA	2		NA											NA				190603299		2202	4300	6502	SO:0001819	synonymous_variant			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687	150709	150709		Ankyrin repeat domain containing, Armadillo repeat containing	26350	protein-coding gene	gene with protein product		609803			NA	15110750	Standard	NM_144708	NM_144708	NA	Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3591A>G	2.37:g.190603299A>G		NA	Q3ZCS6|Q4G0M2|Q6ZU02	37	CCDS33351.2																																																																																			ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335045.3		+	ENST00000520309.1	Silent	SNP	2 : 190603299 - 190603299 G PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	526	87
ANKRD28	23243	broad.mit.edu	37	3	15752737	15752737	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:15752737G>A	ENST00000399451.2	-	12	1595	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y	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	410						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCAGCTGCATGTAGACAAGTC	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	3		NA											NA				15752737		1820	4082	5902	SO:0001583	missense			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560	23243	23243		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			NA	9205841	Standard	NM_015199	NM_015199	NA	Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1228C>T	3.37:g.15752737G>A	ENSP00000382379:p.His410Tyr	NA	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799957	0.90538	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.71222	-0.55;-0.55;-0.55	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.995	D	0.86664	0.1906	10	0.51188	T	0.08	.	19.584	0.95484	0.0:0.0:1.0:0.0	.	443;440;410	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	Y	410;443;410	ENSP00000382379:H410Y;ENSP00000373287:H443Y;ENSP00000397341:H410Y	ENSP00000373287:H443Y	H	-	1	0	ANKRD28	15727741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.779000	0.99018	2.698000	0.92095	0.655000	0.94253	CAT	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339758.1		-	ENST00000399451.2	Missense_Mutation	SNP	3 : 15752737 - 15752737 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	209	5
AQP4	361	broad.mit.edu	37	18	24436280	24436280	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:24436280C>T	ENST00000383168.4	-	5	995	c.867G>A	c.(865-867)acG>acA	p.T289T	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.T267T|AQP4_ENST00000581374.1_Silent_p.T267T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	289					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	p.T289T(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)					TCAGGTCATCCGTCTCTACCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	360	295	317		867,801	-11.5	0	18		317	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AQP4	NM_001650.4,NM_004028.3	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	289/324,267/302	24436280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885	361	361		Ion channels / Aquaporins	637	protein-coding gene	gene with protein product		600308			NA	7528931	Standard	NM_001650, NM_004028	NM_001650	NA	Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.867G>A	18.37:g.24436280C>T		NA	P78564	37	CCDS11889.1																																																																																			AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254914.2		-	ENST00000383168.4	Silent	SNP	18 : 24436280 - 24436280 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	1010	19
ARSF	416	broad.mit.edu	37	X	3002668	3002668	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:3002668G>T	ENST00000381127.1	+	6	1012	c.791G>T	c.(790-792)gGa>gTa	p.G264V	ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	264						extracellular region	arylsulfatase activity|metal ion binding			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)				GAACGAGCTGGATCCATTATG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	51	53			NA	NA	X		NA											NA				3002668		2203	4300	6503	SO:0001583	missense			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096	416	416		Arylsulfatase family	721	protein-coding gene	gene with protein product		300003			NA	7720070	Standard		NM_004042	NA	Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.791G>T	X.37:g.3002668G>T	ENSP00000370519:p.Gly264Val	NA	Q8TCC5	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	4.411	0.075973	0.08485	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98474	-4.95;-4.95;-4.95	2.99	2.99	0.34606	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.279575	0.32987	U	0.005404	D	0.95401	0.8507	N	0.11870	0.19	0.09310	N	1	B	0.22851	0.076	B	0.40329	0.326	D	0.91487	0.5209	10	0.62326	D	0.03	.	9.713	0.40256	0.0:0.4614:0.5386:0.0	.	264	P54793	ARSF_HUMAN	V	264	ENSP00000370519:G264V;ENSP00000445594:G264V;ENSP00000352319:G264V	ENSP00000352319:G264V	G	+	2	0	ARSF	3012668	0.001000	0.12720	0.292000	0.24919	0.582000	0.36321	0.559000	0.23485	1.099000	0.41499	0.534000	0.68092	GGA	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055652.1		+	ENST00000381127.1	Missense_Mutation	SNP	X : 3002668 - 3002668 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	263	44
ASPM	259266	broad.mit.edu	37	1	197070385	197070385	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:197070385T>C	ENST00000367409.4	-	18	8252	c.7996A>G	c.(7996-7998)Acc>Gcc	p.T2666A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2666	IQ 29.				mitosis	cytoplasm|nucleus	calmodulin binding			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						ACTGCTTGGGTACGCACTGCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	56	58			NA	NA	1		NA											NA				197070385		2203	4299	6502	SO:0001583	missense			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7996A>G	1.37:g.197070385T>C	ENSP00000356379:p.Thr2666Ala	NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297929	0.23650	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71461	-0.57	4.87	2.43	0.29744	.	0.323751	0.26478	N	0.024158	T	0.67859	0.2938	L	0.38838	1.175	0.21473	N	0.999675	P;P	0.51933	0.949;0.587	D;B	0.65987	0.94;0.241	T	0.55289	-0.8164	10	0.22109	T	0.4	.	1.899	0.03264	0.1319:0.1509:0.1367:0.5805	.	652;2666	E7EQ84;Q8IZT6	.;ASPM_HUMAN	A	2666;652	ENSP00000356379:T2666A	ENSP00000356376:T652A	T	-	1	0	ASPM	195337008	0.001000	0.12720	0.197000	0.23402	0.500000	0.33767	0.732000	0.26072	0.259000	0.21709	0.455000	0.32223	ACC	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Missense_Mutation	SNP	1 : 197070385 - 197070385 C PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	386	118
ATP10A	57194	broad.mit.edu	37	15	25940081	25940081	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:25940081G>A	ENST00000356865.6	-	14	3084	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	991					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			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)		CAAGGAAGAGGAATTTGTCCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	88			NA	NA	15		NA											NA				25940081		2203	4300	6503	SO:0001819	synonymous_variant			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190	57194	57194		ATPases / P-type	13542	protein-coding gene	gene with protein product		605855	ATPase, Class V, type 10C, ATPase, Class V, type 10A	ATP10C	NA	11015572, 9628581	Standard	NM_024490	NM_024490	NA	Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2973C>T	15.37:g.25940081G>A		NA	Q969I4	37	CCDS32178.1																																																																																			ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414830.1		-	ENST00000356865.6	Silent	SNP	15 : 25940081 - 25940081 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	255	39
BLZF1	8548	broad.mit.edu	37	1	169349763	169349763	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:169349763G>A	ENST00000367808.3	+	5	1136	c.713G>A	c.(712-714)cGt>cAt	p.R238H	BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	238					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCTTTACAGCGTCAAAACCGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	111	118			NA	NA	1		NA											NA				169349763		2203	4300	6503	SO:0001583	missense			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475	8548	8548			1065	protein-coding gene	gene with protein product		608692			NA	9129147	Standard	NM_003666	NM_003666	NA	Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.713G>A	1.37:g.169349763G>A	ENSP00000356782:p.Arg238His	NA	O15298|Q5T531|Q5T533|Q9GZX4	37	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828201	0.71143	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.13307	2.6;2.6;2.6	5.52	4.59	0.56863	.	0.116880	0.53938	D	0.000046	T	0.07369	0.0186	M	0.61703	1.905	0.46981	D	0.999278	B;B	0.32160	0.358;0.358	B;B	0.23018	0.043;0.043	T	0.05937	-1.0855	9	0.51188	T	0.08	-24.7466	14.7107	0.69229	0.0707:0.0:0.9293:0.0	.	238;238	A8K6R0;Q9H2G9	.;GO45_HUMAN	H	238	ENSP00000356782:R238H;ENSP00000327541:R238H;ENSP00000404408:R238H	ENSP00000327541:R238H	R	+	2	0	BLZF1	167616387	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.162000	0.71874	1.293000	0.44690	0.637000	0.83480	CGT	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086109.1		+	ENST00000367808.3	Missense_Mutation	SNP	1 : 169349763 - 169349763 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	476	5
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			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)			GGGCCTTGTGCCAGTTGAAGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	180	176			NA	NA	3		NA											NA				113005548		2203	4300	6503	SO:0001583	missense			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857	91653	91653		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)		NA	11782431	Standard	NM_033254	NM_033254	NA	Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	3.37:g.113005548C>T	ENSP00000418663:p.Pro1062Ser	NA	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354485.3		+	ENST00000495514.1	Missense_Mutation	SNP	3 : 113005548 - 113005548 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	1216	9
BTBD11	121551	broad.mit.edu	37	12	108045502	108045502	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:108045502G>A	ENST00000280758.5	+	16	3571	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K|BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1015						integral to membrane	DNA binding			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						GCGACACTGTGAGATTATCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	103			NA	NA	12		NA											NA				108045502		2203	4300	6503	SO:0001583	missense			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3043G>A	12.37:g.108045502G>A	ENSP00000280758:p.Glu1015Lys	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370428	0.95900	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	M	0.87758	2.905	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.79108	0.982;0.992	D	0.88887	0.3343	10	0.87932	D	0	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	552;1015	E9PHS4;A6QL63	.;BTBDB_HUMAN	K	1015;896;552;94	ENSP00000280758:E1015K;ENSP00000413889:E896K;ENSP00000349690:E552K;ENSP00000448322:E94K	ENSP00000280758:E1015K	E	+	1	0	BTBD11	106569632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.258000	0.95555	2.535000	0.85469	0.655000	0.94253	GAG	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Missense_Mutation	SNP	12 : 108045502 - 108045502 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	157	5
CD6	923	broad.mit.edu	37	11	60777109	60777109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:60777109C>T	ENST00000313421.7	+	5	1033	c.847C>T	c.(847-849)Cga>Tga	p.R283*	CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	283	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACACTTCCGAGGGGTCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(169;904 2017 4767 38890 42505)							NA				0													72	60	64			NA	NA	11		NA											NA				60777109		2203	4299	6502	SO:0001587	stop_gained				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725	923	923		CD molecules	1691	protein-coding gene	gene with protein product		186720	CD6 antigen		NA	9013954	Standard	NM_006725	NM_006725	NA	Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.847C>T	11.37:g.60777109C>T	ENSP00000323280:p.Arg283*	NA	Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	37	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312432	0.95655	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	.	.	.	4.76	4.76	0.60689	.	0.215583	0.30210	N	0.010146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3344	0.90282	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000323280:R283X	R	+	1	2	CD6	60533685	0.000000	0.05858	0.954000	0.39281	0.729000	0.41735	0.300000	0.19156	2.575000	0.86900	0.555000	0.69702	CGA	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396449.1		+	ENST00000313421.7	Nonsense_Mutation	SNP	11 : 60777109 - 60777109 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	205	5
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			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)	TATATGGGCCGCACAAGTTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(67;1379 1389 36064 39806)							NA				0													143	142	142			NA	NA	3		NA											NA				121822548		2203	4300	6503	SO:0001583	missense				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013	942	942		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	NA	7513726	Standard	NM_006889	NM_006889	NA	Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His	NA	A0N0P0|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	37	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC	CD86-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355671.1		+	ENST00000330540.2	Missense_Mutation	SNP	3 : 121822548 - 121822548 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	793	8
CDC14A	8556	broad.mit.edu	37	1	100964516	100964516	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:100964516C>T	ENST00000336454.3	+	15	1808	c.1453C>T	c.(1453-1455)Cta>Tta	p.L485L	CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000542213.1_Silent_p.L427L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		AGCCAGTTCTCTAGGGAACTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	53			NA	NA	1		NA											NA				100964516		2203	4300	6503	SO:0001819	synonymous_variant			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335	8556	8556		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)		NA	9367992, 10409437	Standard	NM_033312	NM_033312	NA	Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1453C>T	1.37:g.100964516C>T		NA	B1AQ14|B1AQ15|O43171|O60727|O60728|Q8IXX0	37	CCDS769.1																																																																																			CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030220.1		+	ENST00000336454.3	Silent	SNP	1 : 100964516 - 100964516 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	262	55
CIT	11113	broad.mit.edu	37	12	120198768	120198768	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120198768C>T	ENST00000392521.2	-	20	2451	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.G757D	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	757					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			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)		GAGAATTTTGCCCTTCTCATG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	207	214			NA	NA	12		NA											NA				120198768		2203	4300	6503	SO:0001583	missense			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966	11113	11113			1985	protein-coding gene	gene with protein product	serine/threonine kinase 21	605629	citron (rho-interacting, serine/threonine kinase 21)		NA	9792683	Standard	NM_007174	NM_001206999	NA	Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000392521.2:c.2396G>A	12.37:g.120198768C>T	ENSP00000376306:p.Gly799Asp	NA	Q6XUH8|Q86UQ9|Q9UPZ7	37	CCDS55891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115986|3.115986	0.56505|0.56505	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.05;-0.0	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.238217	.|0.43110	.|D	.|0.000601	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.14661|0.14661	0.345|0.345	0.38369|0.38369	D|D	0.944814|0.944814	.|B;B;B	.|0.26845	.|0.03;0.03;0.161	.|B;B;B	.|0.23852	.|0.022;0.022;0.049	T|T	0.42816|0.42816	-0.9429|-0.9429	5|10	.|0.14252	.|T	.|0.57	.|.	13.9957|13.9957	0.64397|0.64397	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	.|799;757;290	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|D	385|799;757	.|ENSP00000376306:G799D;ENSP00000261833:G757D	.|ENSP00000261833:G757D	A|G	-|-	1|2	0|0	CIT|CIT	118683151|118683151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.928000|3.928000	0.56506|0.56506	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|GGC	CIT-005	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401847.1		-	ENST00000392521.2	Missense_Mutation	SNP	12 : 120198768 - 120198768 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	525	7
CRADD	8738	broad.mit.edu	37	12	94244044	94244044	+	Silent	SNP	G	G	A	rs116316289	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:94244044G>A	ENST00000542893.2	+	3	915	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Silent_p.E199E			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	199					apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACATGTTGGAGTGATGGTGCC	0.597		NA											G	4	0.0018	0.01	0.0028	2184	NA	0.9999	,	,	NA	8e-04	NA	NA	NA	0.0018	0.9762	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G		29,4333		0,29,2152	32	33	33		597	2.3	1	12	dbSNP_132	33	0,8552		0,0,4276	no	coding-synonymous	CRADD	NM_003805.3		0,29,6428	AA,AG,GG	NA	0.0,0.6648,0.2246		199/200	94244044	29,12885	2181	4276	6457	SO:0001819	synonymous_variant			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372	8738	8738			2340	protein-coding gene	gene with protein product	RIP-associated ICH1/CED3-homologous protein with death domain	603454			NA	8985253, 9044836	Standard	NM_003805	NM_003805	NA	Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.597G>A	12.37:g.94244044G>A		NA		37	CCDS9048.1																																																																																			CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408515.1		+	ENST00000542893.2	Silent	SNP	12 : 94244044 - 94244044 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	158	6
CTTN	2017	broad.mit.edu	37	11	70281225	70281225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:70281225G>A	ENST00000376561.3	+	17	1670	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H	CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q|CTTN_ENST00000538675.1_Splice_Site_p.R221H|CTTN_ENST00000301843.8_Missense_Mutation_p.R537Q	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	537	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCAAGGGCCGGTACGGGCTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	52	53			NA	NA	11		NA											NA				70281225		2200	4294	6494	SO:0001630	splice_region_variant			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733	2017	2017			3338	protein-coding gene	gene with protein product		164765	ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)	EMS1	NA	7685625	Standard	NM_138565	NM_005231	NA	Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000376561.3:c.1499+1G>A	11.37:g.70281225G>A		NA		37	CCDS53676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.74|16.74	3.205660|3.205660	0.58234|0.58234	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000376561;ENST00000538675;ENST00000529736|ENST00000346329;ENST00000301843	T;T;T|T;T	0.50813|0.50277	0.73;0.73;0.73|0.75;0.75	5.82|5.82	3.95|3.95	0.45737|0.45737	.|Src homology-3 domain (5);	1.245650|1.245650	0.05460|0.05460	N|N	0.551019|0.551019	T|T	0.42471|0.42471	0.1204|0.1204	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	0.999994|0.999994	D;D|P;P	0.89917|0.49961	1.0;0.977|0.754;0.93	D;P|B;B	0.87578|0.44108	0.998;0.616|0.319;0.441	T|T	0.28933|0.28933	-1.0028|-1.0028	10|10	0.11794|0.29301	T|T	0.64|0.29	-8.3826|-8.3826	11.1574|11.1574	0.48495|0.48495	0.0662:0.0:0.8053:0.1285|0.0662:0.0:0.8053:0.1285	.|.	221;500|500;537	B4E358;Q8N707|Q96H99;Q14247	.;.|.;SRC8_HUMAN	H|Q	500;221;194|500;537	ENSP00000365745:R500H;ENSP00000439762:R221H;ENSP00000431421:R194H|ENSP00000317189:R500Q;ENSP00000301843:R537Q	ENSP00000365745:R500H|ENSP00000301843:R537Q	R|R	+|+	2|2	0|0	CTTN|CTTN	69958873|69958873	0.727000|0.727000	0.28069|0.28069	0.902000|0.902000	0.35471|0.35471	0.332000|0.332000	0.28634|0.28634	3.921000|3.921000	0.56454|0.56454	0.794000|0.794000	0.33899|0.33899	0.655000|0.655000	0.94253|0.94253	CGC|CGG	CTTN-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394097.1	Missense_Mutation	+	ENST00000376561.3	Splice_Site	SNP	11 : 70281225 - 70281225 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	304	10
CYP2J2	1573	broad.mit.edu	37	1	60359407	60359407	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:60359407G>T	ENST00000371204.3	-	9	1468	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	475					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GCTTCTCATTGTTTGGGGGCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	229	223			NA	NA	1		NA											NA				60359407		2203	4300	6503	SO:0001583	missense			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716	1573	1573		Cytochrome P450s	2634	protein-coding gene	gene with protein product		601258	cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2		NA	9570962	Standard	NM_000775	NM_000775	NA	Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1425C>A	1.37:g.60359407G>T	ENSP00000360247:p.Asn475Lys	NA		37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	4.196	0.034984	0.08101	.	.	ENSG00000134716	ENST00000371204	T	0.66460	-0.21	5.77	0.0605	0.14336	.	1.795700	0.02607	N	0.101724	T	0.37320	0.0999	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	10	0.05959	T	0.93	.	1.0313	0.01539	0.1662:0.2556:0.2891:0.2891	.	475	P51589	CP2J2_HUMAN	K	475	ENSP00000360247:N475K	ENSP00000360247:N475K	N	-	3	2	CYP2J2	60131995	0.000000	0.05858	0.042000	0.18584	0.879000	0.50718	-0.027000	0.12371	0.309000	0.22966	0.655000	0.94253	AAC	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024940.1		-	ENST00000371204.3	Missense_Mutation	SNP	1 : 60359407 - 60359407 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	1446	24
DMD	1756	broad.mit.edu	37	X	32503058	32503058	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:32503058G>A	ENST00000357033.4	-	21	2987	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	DMD_ENST00000378677.2_Silent_p.A923A	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	927					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			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)				CTTTCTCTCTGGCCTGCACAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	103	108			NA	NA	X		NA											NA				32503058		2202	4300	6502	SO:0001819	synonymous_variant			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	1756	1756			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	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2781C>T	X.37:g.32503058G>A		NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1																																																																																			DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Silent	SNP	X : 32503058 - 32503058 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	227	44
DNAJC30	84277	broad.mit.edu	37	7	73097630	73097630	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:73097630C>A	ENST00000395176.2	-	1	153	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	42					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						TACGAGCAGTCGCCCTGGGAA	0.607		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	7		NA											NA				73097630		2200	4293	6493	SO:0001583	missense			AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410	84277	84277		Heat shock proteins / DNAJ (HSP40)	16410	protein-coding gene	gene with protein product			Williams Beuren syndrome chromosome region 18	WBSCR18	NA	12073013	Standard		NM_032317	NA	Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.124G>T	7.37:g.73097630C>A	ENSP00000378605:p.Asp42Tyr	NA	Q9BSG8	37	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297340	0.60086	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.57907	0.37	4.66	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.393472	0.19126	N	0.122048	T	0.50803	0.1637	L	0.29908	0.895	0.29622	N	0.846083	D	0.62365	0.991	P	0.57283	0.817	T	0.47548	-0.9109	10	0.51188	T	0.08	-13.1658	6.82	0.23852	0.0:0.7956:0.0:0.2044	.	42	Q96LL9	DJC30_HUMAN	Y	42;39	ENSP00000378605:D42Y	ENSP00000378605:D42Y	D	-	1	0	DNAJC30	72735566	0.000000	0.05858	0.033000	0.17914	0.023000	0.10783	0.068000	0.14531	1.167000	0.42706	0.655000	0.94253	GAC	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252304.2		-	ENST00000395176.2	Missense_Mutation	SNP	7 : 73097630 - 73097630 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	541	91
DOCK9	23348	broad.mit.edu	37	13	99567729	99567729	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:99567729T>C	ENST00000376460.1	-	8	826	c.746A>G	c.(745-747)gAg>gGg	p.E249G	DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	250	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			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)					CATCTTGAGCTCAAAAGCAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	65	68			NA	NA	13		NA											NA				99567729		1936	4149	6085	SO:0001583	missense			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387	23348	23348		Pleckstrin homology (PH) domain containing	14132	protein-coding gene	gene with protein product	zizimin1	607325			NA	12172552, 12432077	Standard	NM_015296	NM_015296	NA	Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.746A>G	13.37:g.99567729T>C	ENSP00000365643:p.Glu249Gly	NA	Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584483	0.86748	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.985;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.982;1.0	D	0.91171	0.4968	9	.	.	.	.	14.4179	0.67163	0.0:0.0:0.0:1.0	.	250;249;249;249;250	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	G	249;250;250;250;249;250;261;249	ENSP00000365643:E249G;ENSP00000341086:E250G;ENSP00000401958:E261G;ENSP00000406883:E249G	.	E	-	2	0	DOCK9	98365730	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.824000	0.53156	0.533000	0.62120	GAG	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045566.1		-	ENST00000376460.1	Missense_Mutation	SNP	13 : 99567729 - 99567729 C PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	106	5
DPP6	1804	broad.mit.edu	37	7	154585899	154585899	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:154585899G>A	ENST00000404039.1	+	11	1642	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E|DPP6_ENST00000377770.3_Missense_Mutation_p.G416E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	416					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			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)			GCCACCACGGGGGTCTGCACG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(125;1384 1783 2490 7422 34254)							NA				0													25	28	27			NA	NA	7		NA											NA				154585899		2047	4184	6231	SO:0001583	missense			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226	1804	1804			3010	protein-coding gene	gene with protein product		126141	dipeptidylpeptidase VI, dipeptidylpeptidase 6		NA	1729689	Standard	NM_130797	XM_006715871	NA	Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.1055G>A	7.37:g.154585899G>A	ENSP00000385578:p.Gly352Glu	NA		37		.	.	.	.	.	.	.	.	.	.	G	35	5.469040	0.96274	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.91635	0.969;0.997;0.999;0.998	T	0.79683	-0.1701	10	0.59425	D	0.04	-17.0272	16.5503	0.84471	0.0:0.0:1.0:0.0	.	309;354;416;352	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	352;416;354;309	ENSP00000385578:G352E;ENSP00000367001:G416E;ENSP00000328226:G354E;ENSP00000397303:G309E	ENSP00000328226:G354E	G	+	2	0	DPP6	154216832	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.205000	0.95048	2.070000	0.61991	0.650000	0.86243	GGG	DPP6-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000322930.1		+	ENST00000404039.1	Missense_Mutation	SNP	7 : 154585899 - 154585899 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	101	20
E2F4	1874	broad.mit.edu	37	16	67229820	67229820	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:67229820G>A	ENST00000379378.3	+	7	1003	c.944G>A	c.(943-945)aGc>aAc	p.S315N		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	315	Poly-Ser.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S315T(1)		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)		agcagcagcagcagcagcagc	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											41	45	44			NA	NA	16		NA											NA				67229820		2196	4296	6492	SO:0001583	missense			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250	1874	1874			3118	protein-coding gene	gene with protein product		600659			NA	7958924, 7892279	Standard	NM_001950	NM_001950	NA	Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.944G>A	16.37:g.67229820G>A	ENSP00000368686:p.Ser315Asn	NA	A6NGR8|B5BU56|Q12991|Q15328	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	g	0.496	-0.873214	0.02570	.	.	ENSG00000205250	ENST00000379378	D	0.85339	-1.97	2.25	1.29	0.21616	.	1.862190	0.03067	U	0.156642	T	0.69495	0.3117	N	0.08118	0	0.20074	N	0.999939	B	0.13145	0.007	B	0.09377	0.004	T	0.58160	-0.7685	10	0.16896	T	0.51	.	5.0769	0.14636	0.1765:0.0:0.8235:0.0	.	315	Q16254	E2F4_HUMAN	N	315	ENSP00000368686:S315N	ENSP00000368686:S315N	S	+	2	0	E2F4	65787321	1.000000	0.71417	0.994000	0.49952	0.062000	0.15995	2.928000	0.48908	0.532000	0.28657	-0.444000	0.05651	AGC	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421565.1		+	ENST00000379378.3	Missense_Mutation	SNP	16 : 67229820 - 67229820 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	340	17
ENAM	10117	broad.mit.edu	37	4	71508016	71508016	+	Silent	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:71508016A>T	ENST00000396073.3	+	9	1154	c.873A>T	c.(871-873)ccA>ccT	p.P291P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	291					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGATTGGCCCACTCCCTGCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	62	63			NA	NA	4		NA											NA				71508016		2203	4300	6503	SO:0001819	synonymous_variant			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464	10117	10117			3344	protein-coding gene	gene with protein product		606585	amelogenesis imperfecta 2, hypocalcification (autosomal dominant)	AIH2	NA	11978766	Standard	NM_031889	NM_031889	NA	Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.873A>T	4.37:g.71508016A>T		NA	Q17RI5|Q9H3D1	37	CCDS3544.2																																																																																			ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252166.3		+	ENST00000396073.3	Silent	SNP	4 : 71508016 - 71508016 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	299	5
EPO	2056	broad.mit.edu	37	7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GACACTTTCCGCAAACTCTTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	129	128			NA	NA	7		NA											NA				100320671		2203	4300	6503	SO:0001583	missense			X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427	2056	2056		Endogenous ligands	3415	protein-coding gene	gene with protein product		133170			NA	9799793, 3838366	Standard	NM_000799	NM_000799	NA	Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.497G>A	7.37:g.100320671G>A	ENSP00000252723:p.Arg166His	NA	Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	37	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870924	0.17322	.	.	ENSG00000130427	ENST00000252723	T	0.48836	0.8	5.27	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580439	0.18303	N	0.145360	T	0.23014	0.0556	N	0.08118	0	0.19775	N	0.99996	B;B	0.23806	0.091;0.091	B;B	0.08055	0.003;0.003	T	0.11616	-1.0580	10	0.46703	T	0.11	-36.0186	6.5646	0.22505	0.0954:0.3568:0.5478:0.0	.	165;166	B7ZKK5;P01588	.;EPO_HUMAN	H	166	ENSP00000252723:R166H	ENSP00000252723:R166H	R	+	2	0	EPO	100158607	0.997000	0.39634	0.797000	0.32132	0.101000	0.19017	1.375000	0.34295	1.333000	0.45449	0.643000	0.83706	CGC	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325323.1		+	ENST00000252723.2	Missense_Mutation	SNP	7 : 100320671 - 100320671 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	596	6
GTPBP10	85865	broad.mit.edu	37	7	89984432	89984432	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:89984432G>A	ENST00000222511.6	+	4	418	c.352G>A	c.(352-354)Gta>Ata	p.V118I	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	118					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CAGAATTTTGGTAGCTCAAGG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	99	97			NA	NA	7		NA											NA				89984432		2203	4299	6502	SO:0001583	missense				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793	85865	85865			25106	protein-coding gene	gene with protein product		610920			NA	12477932	Standard	NM_033107	NM_001042717	NA	Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.352G>A	7.37:g.89984432G>A	ENSP00000222511:p.Val118Ile	NA	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	37	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207693	0.58343	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.23147	1.92;1.92;1.92	5.93	1.65	0.23941	GTP1/OBG subdomain (3);	0.255751	0.38111	N	0.001808	T	0.20047	0.0482	N	0.25825	0.765	0.41162	D	0.986103	P;B;B	0.34639	0.461;0.142;0.087	B;B;B	0.40940	0.186;0.134;0.344	T	0.04723	-1.0931	9	.	.	.	-5.9962	11.8274	0.52275	0.2753:0.0:0.7247:0.0	.	118;109;135	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	I	109;135;118	ENSP00000405697:V109I;ENSP00000389510:V135I;ENSP00000222511:V118I	.	V	+	1	0	GTPBP10	89822368	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.014000	0.57145	0.417000	0.25871	0.655000	0.94253	GTA	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059976.3		+	ENST00000222511.6	Missense_Mutation	SNP	7 : 89984432 - 89984432 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	738	9
HMGCR	3156	broad.mit.edu	37	5	74646647	74646647	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:74646647C>T	ENST00000287936.4	+	9	970	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	272					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			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)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGCTCACAGTCGCTGGATAGC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	129	128			NA	NA	5		NA											NA				74646647		2203	4300	6503	SO:0001583	missense				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	3156	3156	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		NA		Standard		NM_000859	NA	Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.814C>T	5.37:g.74646647C>T	ENSP00000287936:p.Arg272Cys	NA	Q8N190	37	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171053	0.94807	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.59502	0.37;0.37;0.26	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	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	0.75484	0.977;0.945;0.986;0.964	T	0.80067	-0.1537	10	0.72032	D	0.01	-13.5435	20.3248	0.98698	0.0:1.0:0.0:0.0	.	272;272;272;272	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	C	272;203;272;272	ENSP00000426745:R272C;ENSP00000287936:R272C;ENSP00000340816:R272C	ENSP00000287936:R272C	R	+	1	0	HMGCR	74682403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.924000	0.70054	2.818000	0.97014	0.655000	0.94253	CGC	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219877.2		+	ENST00000287936.4	Missense_Mutation	SNP	5 : 74646647 - 74646647 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	379	7
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:198367975G>A	ENST00000409729.1	+	3	433	c.136G>A	c.(136-138)Gta>Ata	p.V46I	HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000233893.5_Missense_Mutation_p.V101I|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR					heat shock 10kDa protein 1	NA										lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	123	121			NA	NA	2		NA											NA				198367975		2203	4299	6502	SO:0001583	missense			AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541	3336	3336		Heat Shock Proteins / Chaperonins	5269	protein-coding gene	gene with protein product	chaperonin 10	600141	heat shock 10kD protein 1 (chaperonin 10)		NA	7914093, 7698325	Standard	NM_002157	NM_002157	NA	Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000409729.1:c.136G>A	2.37:g.198367975G>A	ENSP00000387101:p.Val46Ile	NA		37		.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA	HSPE1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335336.1		+	ENST00000409729.1	Missense_Mutation	SNP	2 : 198367975 - 198367975 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	615	7
IFI44L	10964	broad.mit.edu	37	1	79093845	79093845	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:79093845C>T	ENST00000370751.5	+	2	424	c.245C>T	c.(244-246)tCc>tTc	p.S82F	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	NA						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCAAATGATTCCCTATGGTTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	58	57			NA	NA	1		NA											NA				79093845		2202	4298	6500	SO:0001583	missense			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959	10964	10964			17817	protein-coding gene	gene with protein product		613975	chromosome 1 open reading frame 29	C1orf29	NA		Standard	NM_006820	NM_006820	NA	Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.245C>T	1.37:g.79093845C>T	ENSP00000359787:p.Ser82Phe	NA	Q86TE1|Q96B64|Q99984	37	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000516	0.35320	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.35973	1.28;3.08;2.49	2.89	1.97	0.26223	.	0.239768	0.34652	N	0.003789	T	0.10208	0.0250	L	0.34521	1.04	0.21184	N	0.999769	B	0.28552	0.215	B	0.28916	0.096	T	0.13098	-1.0522	10	0.54805	T	0.06	-4.5215	5.0216	0.14363	0.0:0.7217:0.0:0.2783	.	82	Q53G44	IF44L_HUMAN	F	82;82;59	ENSP00000409914:S82F;ENSP00000359787:S82F;ENSP00000400784:S59F	ENSP00000359787:S82F	S	+	2	0	IFI44L	78866433	0.000000	0.05858	0.010000	0.14722	0.106000	0.19336	0.018000	0.13422	0.793000	0.33875	0.411000	0.27672	TCC	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026834.3		+	ENST00000370751.5	Missense_Mutation	SNP	1 : 79093845 - 79093845 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	278	11
KCNH6	81033	broad.mit.edu	37	17	61611489	61611489	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:61611489C>T	ENST00000583023.1	+	5	929	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	306					regulation of transcription, DNA-dependent|signal transduction					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					Ibutilide(DB00308)	TGGATCTCATCGTGGACATCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													227	194	205			NA	NA	17		NA											NA				61611489		2203	4300	6503	SO:0001819	synonymous_variant			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826	81033	81033		Potassium channels, Voltage-gated ion channels / Potassium channels	18862	protein-coding gene	gene with protein product		608168			NA	16382104	Standard	NM_030779	NM_030779	NA	Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.918C>T	17.37:g.61611489C>T		NA	Q9BRD7	37	CCDS11638.1																																																																																			KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443853.1		+	ENST00000583023.1	Silent	SNP	17 : 61611489 - 61611489 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	482	114
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	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	3845	3845			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	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	304	54
KRT78	196374	broad.mit.edu	37	12	53233575	53233575	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:53233575C>T	ENST00000359499.4	-	7	922	c.911G>A	c.(910-912)cGc>cAc	p.R304H	KRT78_ENST00000304620.4_Missense_Mutation_p.R414H			Q8N1N4	K2C78_HUMAN	keratin 78	414	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCAGCCTGCGGTAAGTGGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4406		0,0,2203	70	61	64		1241	3	1	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT78	NM_173352.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	414/521	53233575	1,13005	2203	4300	6503	SO:0001583	missense			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423	196374	196374		-, Intermediate filaments type II, keratins (basic)	28926	protein-coding gene	gene with protein product		611159			NA	16831889	Standard	NM_173352	XM_005268695	NA	Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000359499.4:c.911G>A	12.37:g.53233575C>T	ENSP00000352479:p.Arg304His	NA	A8K4D6|Q5HYM7|Q7RTT2	37		.	.	.	.	.	.	.	.	.	.	C	15.34	2.803941	0.50315	0.0	1.16E-4	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.94687	-3.49;-3.49	3.89	2.98	0.34508	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95043	0.8395	M	0.92833	3.35	0.27025	N	0.964374	B	0.31459	0.324	B	0.28465	0.09	D	0.91031	0.4864	9	0.72032	D	0.01	.	12.4504	0.55675	0.0:0.8293:0.1707:0.0	.	414	Q8N1N4	K2C78_HUMAN	H	304;414;185	ENSP00000352479:R304H;ENSP00000306261:R414H	ENSP00000306261:R414H	R	-	2	0	KRT78	51519842	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.883000	0.39658	0.966000	0.38159	-0.502000	0.04539	CGC	KRT78-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000406379.1		-	ENST00000359499.4	Missense_Mutation	SNP	12 : 53233575 - 53233575 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	208	6
LDB2	9079	broad.mit.edu	37	4	16504390	16504390	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:16504390C>T	ENST00000515064.1	-	8	1068	c.992G>A	c.(991-993)gGc>gAc	p.G331D	LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000304523.5_Missense_Mutation_p.G333D			O43679	LDB2_HUMAN	LIM domain binding 2	333	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTCGTCCATGCCGTTGGCCGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	211	221			NA	NA	4		NA											NA				16504390		2203	4300	6503	SO:0001583	missense			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744	9079	9079			6533	protein-coding gene	gene with protein product		603450			NA	9853615, 9880598, 10861853	Standard		NM_001290	NA	Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000515064.1:c.992G>A	4.37:g.16504390C>T	ENSP00000422552:p.Gly331Asp	NA	O60619|O75480	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.144434|4.144434	0.77888|0.77888	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.23348	.|1.91;1.91	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.52933|0.52933	0.1765|0.1765	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.995;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.992;0.945;0.998;0.999	T|T	0.49579|0.49579	-0.8925|-0.8925	5|10	.|0.41790	.|T	.|0.15	-15.8004|-15.8004	18.3199|18.3199	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|297;331;333;307	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	T|D	254|331;333	.|ENSP00000422552:G331D;ENSP00000306772:G333D	.|ENSP00000306772:G333D	A|G	-|-	1|2	0|0	LDB2|LDB2	16113488|16113488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GCA|GGC	LDB2-007	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359767.1		-	ENST00000515064.1	Missense_Mutation	SNP	4 : 16504390 - 16504390 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	607	6
LRP1B	53353	broad.mit.edu	37	2	141773437	141773437	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:141773437A>T	ENST00000389484.3	-	13	2989	c.2018T>A	c.(2017-2019)gTg>gAg	p.V673E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	673					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		AATCCTTCCCACGCTGTCATC	0.418		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													164	159	161			NA	NA	2		NA											NA				141773437		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2018T>A	2.37:g.141773437A>T	ENSP00000374135:p.Val673Glu	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94537	-3.45	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.084078	0.49305	U	0.000157	D	0.91418	0.7292	N	0.12569	0.235	0.40475	D	0.980386	D	0.58970	0.984	P	0.57679	0.825	D	0.88429	0.3034	10	0.02654	T	1	.	16.3534	0.83225	1.0:0.0:0.0:0.0	.	673	Q9NZR2	LRP1B_HUMAN	E	673;611	ENSP00000374135:V673E	ENSP00000374135:V673E	V	-	2	0	LRP1B	141489907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.768000	0.62293	2.311000	0.77944	0.528000	0.53228	GTG	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141773437 - 141773437 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	534	5
MAGEA3	4102	broad.mit.edu	37	X	151935782	151935782	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:151935782G>A	ENST00000393902.3	-	3	952	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	129	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTGACCGGCTCCCTGGCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	123	126			NA	NA	X		NA											NA				151935782		2203	4292	6495	SO:0001583	missense				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867	4102	4102			6801	protein-coding gene	gene with protein product	melanoma-associated antigen 3, antigen MZ2-D, MAGE-3 antigen, cancer/testis antigen family 1, member 3	300174		MAGE3	NA	1840703, 8575766	Standard	NM_005362	NM_005362	NA	Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.385C>T	X.37:g.151935782G>A	ENSP00000377480:p.Pro129Ser	NA	Q6FHI6	37	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.352511	0.24512	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.06449	3.3;3.3;3.3	1.42	0.339	0.15979	.	0.601897	0.18231	N	0.147574	T	0.14570	0.0352	M	0.80508	2.5	0.09310	N	1	P	0.50272	0.933	P	0.54856	0.762	T	0.06338	-1.0832	10	0.59425	D	0.04	.	4.1473	0.10222	0.0:0.0:0.5984:0.4016	.	129	P43357	MAGA3_HUMAN	S	129	ENSP00000359301:P129S;ENSP00000377480:P129S;ENSP00000392758:P129S	ENSP00000359301:P129S	P	-	1	0	MAGEA3	151686438	0.026000	0.19158	0.001000	0.08648	0.009000	0.06853	1.948000	0.40303	0.043000	0.15746	0.358000	0.22013	CCG	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058744.1		-	ENST00000393902.3	Missense_Mutation	SNP	X : 151935782 - 151935782 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	1220	8
MITF	4286	broad.mit.edu	37	3	69985877	69985877	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:69985877C>T	ENST00000394351.3	+	1	124	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	MITF_ENST00000352241.4_Intron|MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000394355.2_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000314589.5_Intron	NM_000248.3	NP_000239.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	0					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			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)		CATTGTTATGCTGGAAATGCT	0.348		NA	A		melanoma		Waardenburg syndrome type 2, Tietz syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													109	98	102			NA	NA	3		NA											NA				69985877		2203	4300	6503	SO:0001819	synonymous_variant				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	4286	4286		Basic helix-loop-helix proteins	7105	protein-coding gene	gene with protein product	homolog of mouse microphthalmia	156845	Waardenburg syndrome, type 2A	WS2A, WS2	NA	8069297, 7874167, 7951321	Standard	NM_198159	NM_198159	NA	Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000394351.3:c.4C>T	3.37:g.69985877C>T		NA	Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	37	CCDS2913.1																																																																																			MITF-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313944.1		+	ENST00000394351.3	Silent	SNP	3 : 69985877 - 69985877 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	238	16
MUC16	94025	broad.mit.edu	37	19	9063069	9063069	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9063069G>A	ENST00000397910.4	-	3	24580	c.24377C>T	c.(24376-24378)aCc>aTc	p.T8126I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8128	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						AGAGCTGCTGGTCTTTCTCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	125	126			NA	NA	19		NA											NA				9063069		2006	4173	6179	SO:0001583	missense			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.24377C>T	19.37:g.9063069G>A	ENSP00000381008:p.Thr8126Ile	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.227	0.227444	0.09916	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.09	2.02	0.26589	.	.	.	.	.	T	0.02767	0.0083	L	0.29908	0.895	.	.	.	P	0.36837	0.571	B	0.37047	0.24	T	0.28073	-1.0055	8	0.87932	D	0	.	7.2133	0.25945	0.0:0.0:0.7105:0.2894	.	8126	B5ME49	.	I	8126	ENSP00000381008:T8126I	ENSP00000381008:T8126I	T	-	2	0	MUC16	8924069	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.336000	0.07863	0.827000	0.34685	0.508000	0.49915	ACC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9063069 - 9063069 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	453	84
MUC17	140453	broad.mit.edu	37	7	100687041	100687041	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100687041C>T	ENST00000306151.4	+	3	12408	c.12344C>T	c.(12343-12345)aCg>aTg	p.T4115M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GCTGTCCCCACGAATACTACA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	141	139			NA	NA	7		NA											NA				100687041		2203	4300	6503	SO:0001583	missense			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876	140453	140453		Mucins	16800	protein-coding gene	gene with protein product		608424			NA	11855812	Standard	NM_001040105	NM_001040105	NA	Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12344C>T	7.37:g.100687041C>T	ENSP00000302716:p.Thr4115Met	NA	O14761|Q685J2|Q8TDH7	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.875680	0.00537	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.06	-2.11	0.07187	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.35793	0.521	B	0.23419	0.046	T	0.35450	-0.9788	9	0.45353	T	0.12	.	4.3146	0.10986	0.0:0.4556:0.3533:0.1911	.	4115	Q685J3	MUC17_HUMAN	M	4115	ENSP00000302716:T4115M	ENSP00000302716:T4115M	T	+	2	0	MUC17	100473761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.644000	0.02002	-3.376000	0.00176	-3.452000	0.00036	ACG	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347161.1		+	ENST00000306151.4	Missense_Mutation	SNP	7 : 100687041 - 100687041 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	350	50
OR10S1	219873	broad.mit.edu	37	11	123847671	123847671	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:123847671C>T	ENST00000531945.1	-	1	817	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R243H(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)		CTGGGCTGTGCGGATGCGCAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											46	47	47			NA	NA	11		NA											NA				123847671		2202	4299	6501	SO:0001583	missense			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248	219873	219873		GPCR / Class A : Olfactory receptors	14807	protein-coding gene	gene with protein product					NA		Standard	NM_001004474	NM_001004474	NA	Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.728G>A	11.37:g.123847671C>T	ENSP00000431914:p.Arg243His	NA	B9EH43|Q6IEV3|Q96R78	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.664	-0.804634	0.02819	.	.	ENSG00000196248	ENST00000531945	T	0.39229	1.09	4.85	0.979	0.19745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000680	T	0.19406	0.0466	N	0.17838	0.53	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.09729	-1.0661	10	0.20519	T	0.43	-8.8926	1.6508	0.02771	0.1318:0.368:0.1283:0.3719	.	243	Q8NGN2	O10S1_HUMAN	H	243	ENSP00000431914:R243H	ENSP00000431914:R243H	R	-	2	0	OR10S1	123352881	0.000000	0.05858	0.043000	0.18650	0.001000	0.01503	-2.583000	0.00904	0.028000	0.15324	-0.782000	0.03352	CGC	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387265.2		-	ENST00000531945.1	Missense_Mutation	SNP	11 : 123847671 - 123847671 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	248	5
OR7D4	125958	broad.mit.edu	37	19	9325236	9325236	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9325236G>A	ENST00000308682.2	-	1	306	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCCATGTAGGAGATGTCTTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	73	76			NA	NA	19		NA											NA				9325236		2203	4300	6503	SO:0001583	missense				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667	125958	125958		GPCR / Class A : Olfactory receptors	8380	protein-coding gene	gene with protein product		611538		OR7D4P	NA		Standard		NM_001005191	NA	Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.278C>T	19.37:g.9325236G>A	ENSP00000310488:p.Ser93Phe	NA	A8CAH8|B9EH79	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350572	0.24512	.	.	ENSG00000174667	ENST00000308682	T	0.00745	5.75	3.86	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.344022	0.25397	N	0.030975	T	0.04003	0.0112	M	0.94142	3.5	0.09310	N	1	P	0.52316	0.952	P	0.55667	0.781	T	0.07158	-1.0787	10	0.87932	D	0	.	8.2914	0.31960	0.0976:0.1631:0.7393:0.0	.	93	Q8NG98	OR7D4_HUMAN	F	93	ENSP00000310488:S93F	ENSP00000310488:S93F	S	-	2	0	OR7D4	9186236	0.075000	0.21258	0.020000	0.16555	0.086000	0.17979	2.488000	0.45276	0.951000	0.37770	0.436000	0.28706	TCC	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449004.1		-	ENST00000308682.2	Missense_Mutation	SNP	19 : 9325236 - 9325236 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	346	69
PCDHB12	56124	broad.mit.edu	37	5	140589361	140589361	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:140589361T>G	ENST00000239450.2	+	1	1071	c.882T>G	c.(880-882)atT>atG	p.I294M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	294	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTGAAATTAATCAAAAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	86	84			NA	NA	5		NA											NA				140589361		2203	4300	6503	SO:0001583	missense			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328	56124	56124		Cadherins / Protocadherins : Clustered	8683	other	protocadherin		606338			NA	10380929	Standard	NM_018932	NM_018932	NA	Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.882T>G	5.37:g.140589361T>G	ENSP00000239450:p.Ile294Met	NA		37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390776	0.25118	.	.	ENSG00000120328	ENST00000239450	T	0.72615	-0.67	4.06	-0.424	0.12321	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70622	0.3245	M	0.81614	2.55	0.39524	D	0.968565	P	0.44429	0.835	P	0.49477	0.612	T	0.68341	-0.5434	9	0.59425	D	0.04	.	0.1734	0.00116	0.2491:0.1891:0.1861:0.3757	.	294	Q9Y5F1	PCDBC_HUMAN	M	294	ENSP00000239450:I294M	ENSP00000239450:I294M	I	+	3	3	PCDHB12	140569545	0.000000	0.05858	0.033000	0.17914	0.538000	0.34931	-4.588000	0.00212	0.078000	0.16900	0.402000	0.26972	ATT	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251815.2		+	ENST00000239450.2	Missense_Mutation	SNP	5 : 140589361 - 140589361 G PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	760	55
PLEKHM2	23207	broad.mit.edu	37	1	16056392	16056392	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:16056392G>A	ENST00000375799.3	+	14	2403	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|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	726					Golgi organization	cytoplasm	kinesin binding			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)		GCTGGCACTGGCCAAATTTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	68	66			NA	NA	1		NA											NA				16056392		2037	4193	6230	SO:0001583	missense			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786	23207	23207		Pleckstrin homology (PH) domain containing	29131	protein-coding gene	gene with protein product		609613			NA	10048485	Standard	NM_015164	NM_015164	NA	Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2176G>A	1.37:g.16056392G>A	ENSP00000364956:p.Ala726Thr	NA	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	37	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872165	0.33069	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.46063	0.89;0.88	5.47	5.47	0.80525	.	0.054388	0.64402	D	0.000001	T	0.29288	0.0729	N	0.12182	0.205	0.48040	D	0.999579	B	0.26902	0.163	B	0.24394	0.053	T	0.05733	-1.0867	10	0.31617	T	0.26	-24.9066	19.3302	0.94283	0.0:0.0:1.0:0.0	.	726	Q8IWE5	PKHM2_HUMAN	T	726;706	ENSP00000364956:A726T;ENSP00000364950:A706T	ENSP00000364950:A706T	A	+	1	0	PLEKHM2	15928979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.803000	0.69129	2.572000	0.86782	0.591000	0.81541	GCC	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008463.1		+	ENST00000375799.3	Missense_Mutation	SNP	1 : 16056392 - 16056392 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	257	5
PMS1	5378	broad.mit.edu	37	2	190718684	190718684	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190718684A>G	ENST00000441310.2	+	8	1075	c.842A>G	c.(841-843)aAt>aGt	p.N281S	PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	281					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			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)			CATCATTACAATCTGAAATGC	0.284		NA	Mis, N			colorectal, endometrial, ovarian		Direct reversal of damage;Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													73	67	69			NA	NA	2		NA											NA				190718684		2201	4295	6496	SO:0001583	missense				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933	NA	5378			9121	protein-coding gene	gene with protein product		600258	postmeiotic segregation increased (S. cerevisiae) 1	PMSL1	NA	8072530	Standard		NM_000534	NA	Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.842A>G	2.37:g.190718684A>G	ENSP00000406490:p.Asn281Ser	NA	D3DPI1	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	4.982	0.182439	0.09495	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;T;D;T;T;T;T	0.83335	-1.35;-1.35;-1.71;-1.35;-1.35;-1.35;-1.35	4.6	-0.982	0.10266	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);	0.586689	0.20108	N	0.099081	T	0.61148	0.2324	N	0.11106	0.095	0.25091	N	0.990853	B;B;B;B;B;B;B	0.20368	0.008;0.013;0.025;0.044;0.008;0.027;0.008	B;B;B;B;B;B;B	0.19666	0.026;0.012;0.026;0.022;0.026;0.017;0.026	T	0.48948	-0.8989	10	0.30078	T	0.28	-9.7476	5.5087	0.16868	0.5066:0.2523:0.2411:0.0	.	281;242;242;66;242;281;281	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	105;281;105;242;281;105;220;66	ENSP00000406490:N281S;ENSP00000404492:N105S;ENSP00000387125:N242S;ENSP00000401064:N281S;ENSP00000398378:N105S;ENSP00000389938:N220S;ENSP00000387169:N66S	ENSP00000376149:N105S	N	+	2	0	PMS1	190426929	0.457000	0.25752	0.992000	0.48379	0.986000	0.74619	0.421000	0.21280	0.038000	0.15604	0.455000	0.32223	AAT	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255918.2		+	ENST00000441310.2	Missense_Mutation	SNP	2 : 190718684 - 190718684 G PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	634	115
PRDM11	56981	broad.mit.edu	37	11	45246046	45246046	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:45246046G>A	ENST00000424263.2	+	7	1266	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T	PRDM11_ENST00000530656.1_Missense_Mutation_p.A375T|PRDM11_ENST00000263765.4_Missense_Mutation_p.A375T|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA	NM_001256695.1|NM_001256696.1	NP_001243624.1|NP_001243625.1	Q9NQV5	PRD11_HUMAN	PR domain containing 11	375										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGGATGACGCCTACAGTCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(118;1511 1736 6472 36603 43224)							NA				0													114	119	117			NA	NA	11		NA											NA				45246046		2203	4299	6502	SO:0001583	missense			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485	56981	56981			13996	protein-coding gene	gene with protein product	PR-domain containing protein 11				NA		Standard	NM_020229	NM_001256695	NA	Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000424263.2:c.1021G>A	11.37:g.45246046G>A	ENSP00000394314:p.Ala341Thr	NA	Q8N9F1	37	CCDS58130.1	.	.	.	.	.	.	.	.	.	.	G	7.057	0.565572	0.13560	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.89	5.41	1.86	0.25419	.	0.907108	0.09408	N	0.806162	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.33904	-0.9850	10	0.26408	T	0.33	-5.4388	9.0019	0.36088	0.4604:0.0:0.5395:0.0	.	375	Q9NQV5	PRD11_HUMAN	T	375;375;341	ENSP00000263765:A375T;ENSP00000435976:A375T;ENSP00000394314:A341T	ENSP00000263765:A375T	A	+	1	0	PRDM11	45202622	0.000000	0.05858	0.102000	0.21198	0.199000	0.23934	0.211000	0.17474	0.187000	0.20147	0.558000	0.71614	GCC	PRDM11-002	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389930.1		+	ENST00000424263.2	Missense_Mutation	SNP	11 : 45246046 - 45246046 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	759	139
PRPS1L1	221823	broad.mit.edu	37	7	18067282	18067282	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:18067282C>T	ENST00000506618.2	-	1	204	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	42					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAATTTCCACGCAGGTCTCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	264	266			NA	NA	7		NA											NA				18067282		2203	4300	6503	SO:0001583	missense			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937	221823	221823			9463	protein-coding gene	gene with protein product		611566		PRPSL	NA	2168892	Standard	NM_175886	NM_175886	NA	Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.124G>A	7.37:g.18067282C>T	ENSP00000424595:p.Val42Met	NA	Q6P5P6	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066850	0.76301	.	.	ENSG00000229937	ENST00000506618	D	0.93019	-3.15	4.27	4.27	0.50696	.	.	.	.	.	D	0.97629	0.9223	H	0.96547	3.84	.	.	.	D	0.89917	1.0	D	0.78314	0.991	D	0.98556	1.0639	8	0.87932	D	0	.	14.5862	0.68326	0.0:1.0:0.0:0.0	.	42	P21108	PRPS3_HUMAN	M	42	ENSP00000424595:V42M	ENSP00000424595:V42M	V	-	1	0	PRPS1L1	18033807	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	5.366000	0.66122	2.375000	0.81037	0.555000	0.69702	GTG	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327667.1		-	ENST00000506618.2	Missense_Mutation	SNP	7 : 18067282 - 18067282 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	950	12
PTPRM	5797	broad.mit.edu	37	18	7567856	7567856	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:7567856C>A	ENST00000332175.8	+	1	1077	c.40C>A	c.(40-42)Ctt>Att	p.L14I	PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I|PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	14					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			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)				TTTGGCCGGACTTTTGCTAAC	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	55			NA	NA	18		NA											NA				7567856		2203	4299	6502	SO:0001583	missense			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482	5797	5797		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	NA	1655529, 8404049	Standard		NM_002845	NA	Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.40C>A	18.37:g.7567856C>A	ENSP00000331418:p.Leu14Ile	NA	D3DUH8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342799	0.61073	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	T;T	0.38401	1.14;1.14	3.47	3.47	0.39725	.	0.288191	0.23920	N	0.043243	T	0.28267	0.0698	L	0.39898	1.24	0.80722	D	1	B;B	0.21688	0.059;0.059	B;B	0.13407	0.009;0.009	T	0.06972	-1.0797	10	0.15952	T	0.53	.	14.55	0.68059	0.0:1.0:0.0:0.0	.	14;14	A7MBN1;P28827	.;PTPRM_HUMAN	I	14	ENSP00000331418:L14I;ENSP00000382933:L14I	ENSP00000331418:L14I	L	+	1	0	PTPRM	7557856	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.495000	0.35627	1.498000	0.48600	0.305000	0.20034	CTT	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254456.1		+	ENST00000332175.8	Missense_Mutation	SNP	18 : 7567856 - 7567856 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	321	44
RB1	5925	broad.mit.edu	37	13	48986341	48986341	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:48986341C>T	ENST00000267163.4	+	17	1833				LPAR6_ENST00000378434.4_Silent_p.R73R|LPAR6_ENST00000345941.2_Silent_p.R73R	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	NA					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(4)		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 Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTAAAAAATCCTGAAGGGTA	0.358		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)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		L, E, M, O	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)											57	51	53			NA	NA	13		NA											NA				48986341		2203	4300	6503	SO:0001627	intron_variant	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687	5925	5925		Endogenous ligands	9884	protein-coding gene	gene with protein product	prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130	614041	osteosarcoma	OSRC	NA	1857421, 15057823	Standard		NM_000321	NA	Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1695+30762C>T	13.37:g.48986341C>T		NA	A8K5E3|P78499|Q5VW46|Q8IZL4	37	CCDS31973.1																																																																																			RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044884.1		+	ENST00000267163.4	Intron	SNP	13 : 48986341 - 48986341 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	147	41
REV3L	5980	broad.mit.edu	37	6	111693843	111693843	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:111693843C>G	ENST00000358835.3	-	14	6169	c.5715G>C	c.(5713-5715)caG>caC	p.Q1905H	REV3L_ENST00000435970.1_Missense_Mutation_p.Q1827H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1905					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			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)		AAAATGGTTCCTGGTAAATAG	0.383		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	114	112			NA	NA	6		NA											NA				111693843		2203	4300	6503	SO:0001583	missense			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413	5980	5980		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)		NA	9618506, 9925914	Standard	NM_002912	NM_001286431	NA	Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5715G>C	6.37:g.111693843C>G	ENSP00000351697:p.Gln1905His	NA	O43214|Q5TC33	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209683	0.39003	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.03	1.84	0.25277	Ribonuclease H-like (1);	0.147380	0.49916	D	0.000123	T	0.60637	0.2284	M	0.81341	2.54	0.35196	D	0.773874	D	0.89917	1.0	D	0.83275	0.996	T	0.66069	-0.6015	10	0.87932	D	0	-2.7769	9.4873	0.38937	0.0:0.5989:0.0:0.4011	.	1905	O60673	DPOLZ_HUMAN	H	1905;1905;1905;1827	ENSP00000357792:Q1905H;ENSP00000357795:Q1905H;ENSP00000351697:Q1905H;ENSP00000402003:Q1827H	ENSP00000351697:Q1905H	Q	-	3	2	REV3L	111800536	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.348000	0.20031	0.459000	0.27016	-0.140000	0.14226	CAG	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043695.1		-	ENST00000358835.3	Missense_Mutation	SNP	6 : 111693843 - 111693843 G PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	652	78
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:17770059C>T	ENST00000380043.3	+	6	1075	c.747C>T	c.(745-747)tgC>tgT	p.C249C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													377	317	337			NA	NA	X		NA											NA				17770059		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634	6322	6322		Sterile alpha motif (SAM) domain containing	10580	protein-coding gene	gene with protein product		300227	sex comb on midleg (Drosophila)-like 1		NA	9570953	Standard	NM_006746	XM_005274578	NA	Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380043.3:c.747C>T	X.37:g.17770059C>T		NA	B0FZN6|B2RA08|Q5H968|Q5H969	37	CCDS14182.2																																																																																			SCML1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060493.1		+	ENST00000380043.3	Silent	SNP	X : 17770059 - 17770059 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	1568	10
SERPINB2	5055	broad.mit.edu	37	18	61562529	61562529	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:61562529C>A	ENST00000299502.4	+	3	280	c.200C>A	c.(199-201)gCa>gAa	p.A67E	SERPINB2_ENST00000457692.1_Missense_Mutation_p.A67E|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	67					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGAGCCAATGCAGTTACCCCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	161	161			NA	NA	18		NA											NA				61562529		2203	4300	6503	SO:0001583	missense			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632	5055	5055		Serine (or cysteine) peptidase inhibitors	8584	protein-coding gene	gene with protein product		173390	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2	PLANH2, PAI2	NA	24172014	Standard	NM_002575	NM_002575	NA	Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.200C>A	18.37:g.61562529C>A	ENSP00000299502:p.Ala67Glu	NA	Q96E96	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	0.513	-0.865696	0.02590	.	.	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;D;D;D;T	0.83673	-1.53;-1.75;-1.75;-1.5;-1.06	5.93	0.717	0.18196	Serpin domain (3);	7739.210000	0.00166	U	0.000005	T	0.54159	0.1841	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62034	-0.6939	10	0.02654	T	1	.	5.6649	0.17690	0.6444:0.1378:0.2178:0.0	.	67	P05120	PAI2_HUMAN	E	67	ENSP00000385397:A67E;ENSP00000299502:A67E;ENSP00000401645:A67E;ENSP00000402386:A67E;ENSP00000397096:A67E	ENSP00000299502:A67E	A	+	2	0	SERPINB2	59713509	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.208000	0.17415	-0.093000	0.12396	-0.262000	0.10625	GCA	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134009.1		+	ENST00000299502.4	Missense_Mutation	SNP	18 : 61562529 - 61562529 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	663	127
SLC13A5	284111	broad.mit.edu	37	17	6599137	6599137	+	Silent	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:6599137G>T	ENST00000433363.2	-	7	1196	c.963C>A	c.(961-963)atC>atA	p.I321I	SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000573648.1_Silent_p.I321I	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	321						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAAGAAGCAGATCAGCACGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	142	142			NA	NA	17		NA											NA				6599137		2203	4300	6503	SO:0001819	synonymous_variant			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485	284111	284111		Solute carriers	23089	protein-coding gene	gene with protein product		608305			NA	12445824	Standard	NM_177550	NM_001284510	NA	Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.963C>A	17.37:g.6599137G>T		NA	Q6ZMG1	37	CCDS11079.1																																																																																			SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219853.2		-	ENST00000433363.2	Silent	SNP	17 : 6599137 - 6599137 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	574	11
SLC22A11	55867	broad.mit.edu	37	11	64329557	64329557	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:64329557C>A	ENST00000377585.3	+	3	889	c.579C>A	c.(577-579)ttC>ttA	p.F193L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000301891.4_Missense_Mutation_p.F193L			Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	193					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCCCAACATTCGTCATCTACT	0.617		NA									OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	55	57			NA	NA	11		NA											NA				64329557		2201	4297	6498	SO:0001583	missense			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065	55867	55867		Solute carriers	18120	protein-coding gene	gene with protein product		607097			NA	10660625, 15576633, 17229912	Standard	NM_018484	NM_018484	NA	Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000377585.3:c.579C>A	11.37:g.64329557C>A	ENSP00000366809:p.Phe193Leu	1075	A8K426|Q53GR2|Q6ZP72|Q8NBU4	37		.	.	.	.	.	.	.	.	.	.	.	10.68	1.419179	0.25552	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.58358	0.34;0.34;0.34	3.29	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.058354	0.64402	N	0.000002	T	0.47303	0.1438	L	0.45422	1.42	0.09310	N	1	P;P;P	0.51933	0.949;0.484;0.861	P;B;B	0.49140	0.601;0.315;0.446	T	0.36817	-0.9732	10	0.45353	T	0.12	.	8.0924	0.30807	0.0:0.7887:0.0:0.2113	.	193;193;193	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	L	193	ENSP00000301891:F193L;ENSP00000366809:F193L;ENSP00000366804:F193L	ENSP00000301891:F193L	F	+	3	2	SLC22A11	64086133	0.056000	0.20664	0.001000	0.08648	0.000000	0.00434	0.659000	0.24994	0.214000	0.20742	-1.547000	0.00903	TTC	SLC22A11-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000141960.1		+	ENST00000377585.3	Missense_Mutation	SNP	11 : 64329557 - 64329557 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	311	63
SLC6A2	6530	broad.mit.edu	37	16	55730216	55730216	+	Silent	SNP	C	C	T	rs149035289		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:55730216C>T	ENST00000379906.2	+	8	1482	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000561820.1_Silent_p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	409					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			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)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	2,4394	4.2+/-10.8	0,2,2196	258	214	229		1227,1227,912,1227	4.4	1	16	dbSNP_134	229	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	,,,	0,3,6495	TT,TC,CC	NA	0.0116,0.0455,0.0231	,,,	409/618,409/618,304/513,409/629	55730216	3,12993	2198	4300	6498	SO:0001819	synonymous_variant				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546	6530	6530		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	NA	2008212	Standard		NM_001043	NA	Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1227C>T	16.37:g.55730216C>T		NA	B2R707	37	CCDS10754.1																																																																																			SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256922.2		+	ENST00000379906.2	Silent	SNP	16 : 55730216 - 55730216 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	780	148
SNTG2	54221	broad.mit.edu	37	2	1204809	1204809	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:1204809G>A	ENST00000308624.5	+	9	741	c.612G>A	c.(610-612)tcG>tcA	p.S204S	SNTG2_ENST00000407292.1_Silent_p.S77S|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	204					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.S204S(2)		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)		CACCTTCCTCGCCCATAGCTA	0.582		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)						G		8,4140		0,8,2066	78	85	83		612	2.1	1	2		83	1,8439		0,1,4219	no	coding-synonymous	SNTG2	NM_018968.3		0,9,6285	AA,AG,GG	NA	0.0118,0.1929,0.0715		204/540	1204809	9,12579	2074	4220	6294	SO:0001819	synonymous_variant			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554	54221	54221			13741	protein-coding gene	gene with protein product		608715			NA	10747910	Standard	NM_018968	NM_018968	NA	Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.612G>A	2.37:g.1204809G>A		NA	Q05AH5	37	CCDS46220.1																																																																																			SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322454.1		+	ENST00000308624.5	Silent	SNP	2 : 1204809 - 1204809 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	454	91
SYNE1	23345	broad.mit.edu	37	6	152763329	152763329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:152763329C>T	ENST00000367255.5	-	31	4490	c.3889G>A	c.(3889-3891)Gcg>Acg	p.A1297T	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			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)		TGCGCCTGCGCGATCTGCTGC	0.557		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	70	73			NA	NA	6		NA											NA				152763329		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			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	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3889G>A	6.37:g.152763329C>T	ENSP00000356224:p.Ala1297Thr	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	c	0.960	-0.703603	0.03255	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87334	0.75;0.75;0.65;0.75;0.85;-2.15;-2.24;-2.24	5.41	2.71	0.32032	.	1.087730	0.07067	N	0.834808	T	0.59432	0.2193	L	0.28274	0.84	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.001;0.002;0.003;0.001;0.002	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.002;0.0;0.002	T	0.47381	-0.9122	10	0.19147	T	0.46	.	5.2817	0.15678	0.1385:0.5754:0.0:0.2861	.	1280;1297;1287;1297;1297;1304	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	T	1297;1304;1297;1304;1363;1297;1287;1297	ENSP00000356224:A1297T;ENSP00000396024:A1304T;ENSP00000265368:A1297T;ENSP00000390975:A1304T;ENSP00000341887:A1363T;ENSP00000356222:A1297T;ENSP00000356217:A1287T;ENSP00000414510:A1297T	ENSP00000265368:A1297T	A	-	1	0	SYNE1	152805022	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.645000	0.24782	0.367000	0.24454	-0.127000	0.14921	GCG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152763329 - 152763329 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	363	57
TCEAL2	140597	broad.mit.edu	37	X	101382205	101382205	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:101382205C>T	ENST00000372780.1	+	3	622	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GGATGATATACCCAGGAAAGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	103	103			NA	NA	X		NA											NA				101382205		2203	4300	6503	SO:0001583	missense			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905	140597	140597			29818	protein-coding gene	gene with protein product					NA	16221301	Standard	NM_080390	NM_080390	NA	Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.403C>T	X.37:g.101382205C>T	ENSP00000361866:p.Pro135Ser	NA	B2R5C7	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461939	0.43736	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.09445	2.98;2.98	3.43	2.57	0.30868	.	0.000000	0.47093	D	0.000250	T	0.26448	0.0646	M	0.74258	2.255	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02581	-1.1138	10	0.62326	D	0.03	.	5.8361	0.18607	0.0:0.8506:0.0:0.1494	.	135	Q9H3H9	TCAL2_HUMAN	S	135	ENSP00000361866:P135S;ENSP00000332359:P135S	ENSP00000332359:P135S	P	+	1	0	TCEAL2	101268861	0.637000	0.27216	0.037000	0.18230	0.992000	0.81027	1.350000	0.34010	0.824000	0.34613	0.594000	0.82650	CCC	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057605.1		+	ENST00000372780.1	Missense_Mutation	SNP	X : 101382205 - 101382205 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	510	97
TCERG1	10915	broad.mit.edu	37	5	145838683	145838683	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:145838683C>T	ENST00000296702.5	+	4	713	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TCERG1_ENST00000394421.2_Silent_p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	225	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			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)			aagcccaagcccaggcccagg	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	20			NA	NA	5		NA											NA				145838683		2202	4300	6502	SO:0001819	synonymous_variant			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			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	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.675C>T	5.37:g.145838683C>T		NA	Q2NKN2|Q59EA1	37	CCDS4282.1																																																																																			TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Silent	SNP	5 : 145838683 - 145838683 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	177	55
TGFBR2	7048	broad.mit.edu	37	3	30732964	30732964	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:30732964A>T	ENST00000295754.5	+	7	1959	c.1577A>T	c.(1576-1578)gAg>gTg	p.E526V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase.		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			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						CACGACCCAGAGGCCCGTCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	65	67			NA	NA	3		NA											NA				30732964		2203	4300	6503	SO:0001583	missense				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513	7048	7048			11773	protein-coding gene	gene with protein product		190182	transforming growth factor, beta receptor II (70-80kD)	MFS2	NA	1319842, 15235604	Standard		NM_001024847	NA	Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1577A>T	3.37:g.30732964A>T	ENSP00000295754:p.Glu526Val	NA	B4DTV5|Q15580|Q6DKT6|Q99474	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007072	0.93287	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.66995	-0.24;-0.24	5.91	5.91	0.95273	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	0.81403	0.4815	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83188	-0.0085	10	0.72032	D	0.01	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	526;551	P37173;D2JYI1	TGFR2_HUMAN;.	V	526;551;356	ENSP00000295754:E526V;ENSP00000351905:E551V	ENSP00000295754:E526V	E	+	2	0	TGFBR2	30707968	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	GAG	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252994.2		+	ENST00000295754.5	Missense_Mutation	SNP	3 : 30732964 - 30732964 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	323	67
TMX2	51075	broad.mit.edu	37	11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	118			NA	NA	11		NA											NA				57506679		2201	4296	6497	SO:0001583	missense			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593	51075	51075		Protein disulfide isomerases	30739	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 12		thioredoxin domain containing 14	TXNDC14	NA	12670024	Standard	NM_015959	NM_015959	NA	Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	11.37:g.57506679C>T	ENSP00000278422:p.Arg231Trp	NA	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	TMX2	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393708.1		+	ENST00000278422.4	Missense_Mutation	SNP	11 : 57506679 - 57506679 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	547	6
TP53	7157	broad.mit.edu	37	17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:7579321_7579322delCA	ENST00000420246.2	-	4	497_498	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(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)		CCGTGCAAGTCACAGACTTGGC	0.554		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)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(1)	GRCh37	CM065494	TP53	M							NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant	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	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000391127:p.Val122fs	NA	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	37	CCDS45606.1																																																																																			TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Frame_Shift_Del	DEL	17 : 7579321 - 7579322 - PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	363	66
TPSD1	23430	broad.mit.edu	37	16	1306874	1306874	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:1306874G>A	ENST00000211076.3	+	3	479	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	111	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGCTGCCGGTCAGCAGGAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	16		NA											NA				1306874		2199	4300	6499	SO:0001583	missense			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	23430	23430	3.4.21.59		14118	protein-coding gene	gene with protein product	mMCP-7-like II, mMCP-7-like I, MMCP-7-LIKE-2	609272			NA	9920877	Standard		NM_012217	NA	Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.331G>A	16.37:g.1306874G>A	ENSP00000211076:p.Val111Ile	NA	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259525	0.23051	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.84298	-1.83;-1.83	2.55	-2.96	0.05547	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.262880	0.05827	N	0.616806	T	0.79822	0.4512	L	0.55990	1.75	0.09310	N	1	B;B	0.20459	0.008;0.045	B;B	0.26614	0.071;0.071	T	0.62530	-0.6835	10	0.44086	T	0.13	.	4.467	0.11694	0.3246:0.1675:0.508:0.0	.	95;111	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	I	104;111	ENSP00000380668:V104I;ENSP00000211076:V111I	ENSP00000211076:V111I	V	+	1	0	TPSD1	1246875	0.000000	0.05858	0.008000	0.14137	0.135000	0.20990	-1.596000	0.02091	-0.864000	0.04078	0.185000	0.17295	GTC	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250320.2		+	ENST00000211076.3	Missense_Mutation	SNP	16 : 1306874 - 1306874 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	249	55
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			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)		ACTTGTGTCCTGAATACCCAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	107			NA	NA	1		NA											NA				211534067		2203	4300	6503	SO:0001819	synonymous_variant			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512	7188	7188		RING-type (C3HC4) zinc fingers	12035	protein-coding gene	gene with protein product		602356			NA	9126477	Standard	NM_004619	NM_001033910	NA	Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.567T>C	1.37:g.211534067T>C		NA		37	CCDS1497.1																																																																																			TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089825.1		+	ENST00000261464.5	Silent	SNP	1 : 211534067 - 211534067 C PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	581	6
TRIM51	84767	broad.mit.edu	37	11	55655602	55655602	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:55655602T>A	ENST00000449290.2	+	4	694	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	201						intracellular	zinc ion binding				NA						TTGGAAAGGCTGCGAAAGGAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	11		NA											NA				55655602		2201	4296	6497	SO:0001583	missense			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900	84767	84767		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19023	protein-coding gene	gene with protein product			SPRY domain containing 5	SPRYD5	NA		Standard	NM_032681	NM_032681	NA	Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.602T>A	11.37:g.55655602T>A	ENSP00000395086:p.Leu201Gln	NA	A6NMG2	37		.	.	.	.	.	.	.	.	.	.	.	10.17	1.277679	0.23307	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.10192	2.9;2.9	0.757	0.757	0.18427	.	.	.	.	.	T	0.35068	0.0919	M	0.93197	3.39	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.09997	-1.0649	9	0.87932	D	0	.	3.8345	0.08888	0.0:0.0:0.0:1.0	.	201	Q9BSJ1	SPRY5_HUMAN	Q	201;58	ENSP00000395086:L201Q;ENSP00000244891:L58Q	ENSP00000244891:L58Q	L	+	2	0	SPRYD5	55412178	0.014000	0.17966	0.001000	0.08648	0.342000	0.28953	1.160000	0.31761	0.594000	0.29761	0.128000	0.15822	CTG	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000391522.1		+	ENST00000449290.2	Missense_Mutation	SNP	11 : 55655602 - 55655602 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	340	43
UGT2A1	10941	broad.mit.edu	37	4	70505048	70505048	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:70505048A>T	ENST00000514019.1	-	3	1029	c.914T>A	c.(913-915)aTt>aAt	p.I305N	UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.I104N|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron	NM_001252274.1	NP_001239203.1	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	95					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTATGGTCAATCCACAGCAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	114			NA	NA	4		NA											NA				70505048		1858	4097	5955	SO:0001583	missense			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02				10941	10941		UDP glucuronosyltransferases	12542	protein-coding gene	gene with protein product		604716	UDP glycosyltransferase 2 family, polypeptide A1, UDP glucuronosyltransferase 2 family, polypeptide A1		NA	10359671	Standard	NM_006798	NM_001252274	NA	Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000514019.1:c.914T>A	4.37:g.70505048A>T	ENSP00000425497:p.Ile305Asn	NA	D3GER1|D3GER2	37	CCDS58902.1	.	.	.	.	.	.	.	.	.	.	A	7.908	0.735923	0.15574	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61859	0.16;0.07	5.85	3.38	0.38709	.	.	.	.	.	T	0.41604	0.1166	N	0.14661	0.345	.	.	.	B;P	0.39282	0.427;0.666	B;B	0.42827	0.399;0.328	T	0.49263	-0.8958	8	0.40728	T	0.16	.	7.2167	0.25963	0.7765:0.1468:0.0766:0.0	.	305;104	E9PDM7;Q9Y4X1-2	.;.	N	104;305	ENSP00000387888:I104N;ENSP00000425497:I305N	ENSP00000387888:I104N	I	-	2	0	UGT2A1	70539637	0.004000	0.15560	0.888000	0.34837	0.834000	0.47266	2.203000	0.42752	0.464000	0.27142	-0.446000	0.05623	ATT	UGT2A1-001	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365519.1		-	ENST00000514019.1	Missense_Mutation	SNP	4 : 70505048 - 70505048 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	361	7
UVRAG	7405	broad.mit.edu	37	11	75562938	75562938	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:75562938G>A	ENST00000356136.3	+	2	369	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	43					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CGGCGTCTTCGACATCTTCGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	123	122			NA	NA	11		NA											NA				75562938		2200	4293	6493	SO:0001583	missense			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382	7405	7405			12640	protein-coding gene	gene with protein product	beclin 1 binding protein	602493	UV radiation resistance associated gene		NA	9169138, 16799551, 18843052	Standard	NM_003369	NM_003369	NA	Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.128G>A	11.37:g.75562938G>A	ENSP00000348455:p.Arg43Gln	NA	O00392	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115643	0.94339	.	.	ENSG00000198382	ENST00000356136	T	0.62232	0.04	5.86	5.86	0.93980	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73216	-0.4053	10	0.72032	D	0.01	-11.0214	17.6814	0.88245	0.0:0.0:1.0:0.0	.	43	Q9P2Y5	UVRAG_HUMAN	Q	43	ENSP00000348455:R43Q	ENSP00000348455:R43Q	R	+	2	0	UVRAG	75240586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.661000	0.83786	2.765000	0.95021	0.655000	0.94253	CGA	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383430.1		+	ENST00000356136.3	Missense_Mutation	SNP	11 : 75562938 - 75562938 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	857	37
VAV3	10451	broad.mit.edu	37	1	108322082	108322082	+	Silent	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:108322082T>A	ENST00000370056.4	-	3	628	c.354A>T	c.(352-354)acA>acT	p.T118T	VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.T118T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	118	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			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)		ATGCTATAGGTGTTCGAGAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	1		NA											NA				108322082		2203	4300	6503	SO:0001819	synonymous_variant			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215	10451	10451		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		NA		Standard	NM_006113	NM_001079874	NA	Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.354A>T	1.37:g.108322082T>A		NA	B1AMM0|B1APV5|B4E232|O95230|Q9Y5X8	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808483	0.16467	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.66	-2.99	0.05497	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	1.9071	0.03279	0.1262:0.3105:0.1305:0.4328	.	.	.	.	L	113	.	.	H	-	2	0	VAV3	108123605	0.350000	0.24878	0.943000	0.38184	0.624000	0.37722	-0.789000	0.04609	-0.883000	0.03982	-0.917000	0.02746	CAC	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030242.2		-	ENST00000370056.4	Silent	SNP	1 : 108322082 - 108322082 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	241	37
VTCN1	79679	broad.mit.edu	37	1	117699284	117699284	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:117699284G>A	ENST00000369458.3	-	3	435	c.357C>T	c.(355-357)aaC>aaT	p.N119N	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Silent_p.N122N	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	119	Ig-like V-type 1.					integral to membrane|plasma membrane				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)		TGAGTTGCACGTTTTTCAGCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	93	91	91		357	-3.5	0.9	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VTCN1	NM_024626.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		119/283	117699284	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258	79679	79679		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			NA	12818165, 12818166	Standard	NM_024626	NM_024626	NA	Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.357C>T	1.37:g.117699284G>A		NA	Q0GN76|Q45VN0|Q5WPZ3|Q9H6B2	37	CCDS894.1																																																																																			VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033500.2		-	ENST00000369458.3	Silent	SNP	1 : 117699284 - 117699284 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	397	6
ZKSCAN3	80317	broad.mit.edu	37	6	28327520	28327520	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:28327520C>T	ENST00000377255.3	+	3	454	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	53	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCGAGGCTTCCGCTACCCGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	64	61			NA	NA	6		NA											NA				28327520		2203	4300	6503	SO:0001583	missense			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298	80317	80317		Zinc fingers, C2H2-type, -, -, -	13853	protein-coding gene	gene with protein product		612791	zinc finger protein 306, zinc finger protein 309	ZNF306, ZNF309	NA	10520746, 22531714	Standard	NM_024493	NM_024493	NA	Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.157C>T	6.37:g.28327520C>T	ENSP00000366465:p.Arg53Cys	NA	B2R8W2|Q5VXH3|Q92972|Q9H4T3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292117	0.40594	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04317	3.65;3.65	3.83	1.03	0.20045	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.03608	0.0103	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54084	-0.8346	9	0.35671	T	0.21	.	2.8501	0.05555	0.3008:0.3842:0.0:0.315	.	53	Q9BRR0	ZKSC3_HUMAN	C	53	ENSP00000252211:R53C;ENSP00000366465:R53C	ENSP00000252211:R53C	R	+	1	0	ZKSCAN3	28435499	0.711000	0.27906	0.995000	0.50966	0.580000	0.36256	-0.636000	0.05465	0.404000	0.25506	0.557000	0.71058	CGC	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040189.3		+	ENST00000377255.3	Missense_Mutation	SNP	6 : 28327520 - 28327520 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	558	90
ZNF181	339318	broad.mit.edu	37	19	35232753	35232753	+	Silent	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35232753T>C	ENST00000392232.3	+	6	1767	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	ZNF181_ENST00000459757.2_Silent_p.Y488Y|ZNF181_ENST00000492450.1_Silent_p.Y489Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			AGAAACCTTATGAATGTATTA	0.388		NA											t	3	0.0014	NA	NA	2184	0.01	0.9995	,	,	NA	4e-04	NA	NA	NA	0.0016	0.8481	EXOME	NA	NA	3e-04	SNP								NA				0													54	57	56			NA	NA	19		NA											NA				35232753		2203	4300	6503	SO:0001819	synonymous_variant			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841	339318	339318		Zinc fingers, C2H2-type, -	12971	protein-coding gene	gene with protein product		606741	zinc finger protein 181 (HHZ181)		NA		Standard	NM_001029997	NM_001029997	NA	Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000392232.3:c.1599T>C	19.37:g.35232753T>C		NA	Q49A75	37																																																																																				ZNF181-001	KNOWN	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349004.2		+	ENST00000392232.3	Silent	SNP	19 : 35232753 - 35232753 C PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	566	9
ZNF302	55900	broad.mit.edu	37	19	35175765	35175765	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35175765C>T	ENST00000446502.2	+	6	1163	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505242.1_Missense_Mutation_p.H275Y|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			ACTTACTAACCATCAGAGCAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	19		NA											NA				35175765		2203	4300	6503	SO:0001583	missense			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335	55900	55900		Zinc fingers, C2H2-type, -	13848	protein-coding gene	gene with protein product					NA		Standard		NM_018675	NA	Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.955C>T	19.37:g.35175765C>T	ENSP00000396379:p.His319Tyr	NA	Q658J3|Q9BZD8|Q9P0J4	37		.	.	.	.	.	.	.	.	.	.	C	12.20	1.866730	0.32977	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	0.967	0.967	0.19674	.	.	.	.	.	D	0.94918	0.8357	H	0.97214	3.96	0.09310	N	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.973;0.999	D	0.85181	0.1004	9	0.87932	D	0	.	7.7985	0.29160	0.0:1.0:0.0:0.0	.	319;275	E7EVR1;Q9NR11-2	.;.	Y	275;275;275;319	ENSP00000391067:H275Y;ENSP00000421028:H275Y;ENSP00000405219:H275Y;ENSP00000396379:H319Y	ENSP00000405219:H275Y	H	+	1	0	ZNF302	39867605	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	6.528000	0.73807	0.822000	0.34565	0.467000	0.42956	CAT	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372731.1		+	ENST00000446502.2	Missense_Mutation	SNP	19 : 35175765 - 35175765 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	413	144
ZNF382	84911	broad.mit.edu	37	19	37117303	37117303	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:37117303G>A	ENST00000435416.1	+	3	1996	c.501G>A	c.(499-501)gaG>gaA	p.E167E	ZNF382_ENST00000423582.1_Silent_p.E119E|ZNF382_ENST00000292928.2_Silent_p.E168E|ZNF382_ENST00000439428.1_Silent_p.E167E			Q96SR6	ZN382_HUMAN	zinc finger protein 382	168	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			CTGGATGGGAGAAATCACTCC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	112	109			NA	NA	19		NA											NA				37117303		2201	4300	6501	SO:0001819	synonymous_variant			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298	84911	84911		Zinc fingers, C2H2-type, -	17409	protein-coding gene	gene with protein product		609516			NA		Standard	NM_032825	NM_032825	NA	Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000435416.1:c.501G>A	19.37:g.37117303G>A		NA	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	37																																																																																				ZNF382-004	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340399.1		+	ENST00000435416.1	Silent	SNP	19 : 37117303 - 37117303 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	1270	26
ZNF507	22847	broad.mit.edu	37	19	32845207	32845207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:32845207C>T	ENST00000311921.4	+	2	1663	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)					TGAGTCTCTTCGATTACACTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	19		NA											NA				32845207		2203	4300	6503	SO:0001587	stop_gained			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813	22847	22847		Zinc fingers, C2H2-type	23783	protein-coding gene	gene with protein product					NA		Standard	NM_014910	NM_014910	NA	Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1471C>T	19.37:g.32845207C>T	ENSP00000312277:p.Arg491*	NA	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	37	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644048	0.87859	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.79	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.1701	0.93574	0.2995:0.7005:0.0:0.0	.	.	.	.	X	491	.	ENSP00000312277:R491X	R	+	1	2	ZNF507	37537047	0.002000	0.14202	0.120000	0.21714	0.130000	0.20726	0.063000	0.14410	-0.159000	0.11021	-0.262000	0.10625	CGA	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450301.3		+	ENST00000311921.4	Nonsense_Mutation	SNP	19 : 32845207 - 32845207 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	503	119
ZNF558	148156	broad.mit.edu	37	19	8922295	8922295	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:8922295G>A	ENST00000601372.1	-	10	1582	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATTCATAAGGTTTCTCCCCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	119	121			NA	NA	19		NA											NA				8922295		2203	4300	6503	SO:0001583	missense			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785	148156	148156		Zinc fingers, C2H2-type, -	26422	protein-coding gene	gene with protein product					NA		Standard	NM_144693	NM_144693	NA	Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.871C>T	19.37:g.8922295G>A	ENSP00000471277:p.Pro291Ser	NA	A8K5F0	37	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458995	0.84317	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.16743	2.32;2.32	5.07	5.07	0.68467	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000595	T	0.38532	0.1044	L	0.60904	1.88	0.47214	D	0.999359	D	0.89917	1.0	D	0.72338	0.977	T	0.09487	-1.0672	10	0.87932	D	0	-15.4151	15.9729	0.80034	0.0:0.0:1.0:0.0	.	291	Q96NG5	ZN558_HUMAN	S	291;220	ENSP00000301475:P291S;ENSP00000410703:P220S	ENSP00000301475:P291S	P	-	1	0	ZNF558	8783295	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	8.818000	0.91991	2.636000	0.89361	0.591000	0.81541	CCT	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459955.2		-	ENST00000601372.1	Missense_Mutation	SNP	19 : 8922295 - 8922295 A PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	516	11
ZNF814	730051	broad.mit.edu	37	19	58384887	58384887	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:58384887C>T	ENST00000435989.2	-	3	2105	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	624					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGTGTGCATGCGCTGATGGTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	60	65			NA	NA	19		NA											NA				58384887		692	1591	2283	SO:0001583	missense				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514	730051	730051		Zinc fingers, C2H2-type, -	33258	protein-coding gene	gene with protein product					NA		Standard	XM_001725708	NM_001144989	NA	Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1871G>A	19.37:g.58384887C>T	ENSP00000410545:p.Arg624His	NA	A6NF35	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.486961	0.26686	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.25749	1.78	2.04	-3.61	0.04556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34658	0.0905	M	0.85462	2.755	0.09310	N	1	D	0.76494	0.999	P	0.50440	0.641	T	0.21724	-1.0237	9	0.87932	D	0	.	3.8089	0.08789	0.0:0.3929:0.1863:0.4208	.	624	B7Z6K7	ZN814_HUMAN	H	624;374	ENSP00000410545:R624H	ENSP00000365378:R374H	R	-	2	0	ZNF814	63076699	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.574000	0.02133	-0.904000	0.03876	0.305000	0.20034	CGC	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466976.1		-	ENST00000435989.2	Missense_Mutation	SNP	19 : 58384887 - 58384887 T PAAD-TCGA-3A-A9IC-Tumor-SM-5W7V9	352	68
