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
AGPAT9	84803	broad.mit.edu	37	4	84508424	84508424	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:84508424A>T	ENST00000395226.2	+	5	714	c.496A>T	c.(496-498)Att>Ttt	p.I166F	AGPAT9_ENST00000264409.4_Missense_Mutation_p.I166F	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	166					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTGGCTTTCATTGGGATCAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	155	156			NA	NA	4		NA											NA				84508424		2203	4300	6503	SO:0001583	missense			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	84803	84803	2.3.1.15	1-acylglycerol-3-phosphate O-acyltransferases	28157	protein-coding gene	gene with protein product	lysophosphatidic acid acyltransferase, theta	610958	1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)		NA	12975309	Standard	NM_032717	NM_001256421	NA	Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.496A>T	4.37:g.84508424A>T	ENSP00000378651:p.Ile166Phe	NA	Q68CJ4|Q6GPI6|Q96NA3	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739003	0.49045	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.49432	0.78;0.78	5.55	-1.01	0.10169	.	0.147943	0.64402	N	0.000012	T	0.30572	0.0769	L	0.46670	1.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04693	-1.0933	10	0.21540	T	0.41	-12.882	4.0871	0.09951	0.6087:0.1039:0.0645:0.223	.	166	Q53EU6	GPAT3_HUMAN	F	166	ENSP00000378651:I166F;ENSP00000264409:I166F	ENSP00000264409:I166F	I	+	1	0	AGPAT9	84727448	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.057000	0.64294	0.038000	0.15604	0.528000	0.53228	ATT	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252821.3		+	ENST00000395226.2	Missense_Mutation	SNP	4 : 84508424 - 84508424 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	891	239
AJAP1	55966	broad.mit.edu	37	1	4772349	4772349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:4772349C>T	ENST00000378191.4	+	2	800	c.419C>T	c.(418-420)gCg>gTg	p.A140V	AJAP1_ENST00000378190.3_Missense_Mutation_p.A140V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	140					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCGTCCTCCGCGGTGGCCGGT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	7	7			NA	NA	1		NA											NA				4772349		2075	4103	6178	SO:0001583	missense			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581	55966	55966			30801	protein-coding gene	gene with protein product	transmembrane protein SHREW1	610972			NA	14595118	Standard	NM_018836	NM_001042478	NA	Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.419C>T	1.37:g.4772349C>T	ENSP00000367433:p.Ala140Val	NA	Q9Y229	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.516965	0.04171	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.44482	0.92;0.92	4.55	-0.916	0.10489	.	2.012640	0.02618	N	0.102845	T	0.26484	0.0647	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15954	-1.0419	10	0.30078	T	0.28	1.4174	7.1766	0.25749	0.0:0.4287:0.0:0.5713	.	140	Q9UKB5	AJAP1_HUMAN	V	140	ENSP00000367432:A140V;ENSP00000367433:A140V	ENSP00000367432:A140V	A	+	2	0	AJAP1	4672209	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.001000	0.03690	-0.051000	0.13334	-0.362000	0.07510	GCG	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001542.3		+	ENST00000378191.4	Missense_Mutation	SNP	1 : 4772349 - 4772349 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	54	13
ALMS1	7840	broad.mit.edu	37	2	73675916	73675916	+	Silent	SNP	T	T	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:73675916T>C	ENST00000264448.6	+	8	2370	c.2259T>C	c.(2257-2259)acT>acC	p.T753T	ALMS1_ENST00000377715.1_Silent_p.T753T|ALMS1_ENST00000409009.1_Silent_p.T711T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	753	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCAGAAGACTGAGATACCAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	147	147			NA	NA	2		NA											NA				73675916		1895	4116	6011	SO:0001819	synonymous_variant			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127	7840	7840			428	protein-coding gene	gene with protein product		606844			NA	9063741	Standard	NM_015120	NM_015120	NA	Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2259T>C	2.37:g.73675916T>C		NA	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	37	CCDS42697.1																																																																																			ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327776.1		+	ENST00000264448.6	Silent	SNP	2 : 73675916 - 73675916 C PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	1403	182
ATAD5	79915	broad.mit.edu	37	17	29167753	29167753	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:29167753C>G	ENST00000321990.4	+	4	2573	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	732					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGCGCTCCTCTAGACATCAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	92	90			NA	NA	17		NA											NA				29167753		2203	4300	6503	SO:0001583	missense				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208	79915	79915		ATPases / AAA-type	25752	protein-coding gene	gene with protein product	enhanced level of genomic instability 1 homolog (S. cerevisiae)	609534	chromosome 17 open reading frame 41	C17orf41	NA	15983387, 11468690, 19755857	Standard	NM_024857	NM_024857	NA	Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2195C>G	17.37:g.29167753C>G	ENSP00000313171:p.Ser732Cys	NA	Q05DH0|Q69YR6|Q9H9I1	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413979	0.42817	.	.	ENSG00000176208	ENST00000321990	T	0.13089	2.62	6.05	6.05	0.98169	.	0.809409	0.11693	N	0.538668	T	0.41373	0.1156	M	0.63843	1.955	0.40418	D	0.979817	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.06006	-1.0851	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	732;732	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	732	ENSP00000313171:S732C	ENSP00000313171:S732C	S	+	2	0	ATAD5	26191879	0.984000	0.35163	1.000000	0.80357	0.882000	0.50991	3.568000	0.53820	2.878000	0.98634	0.650000	0.86243	TCT	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256206.2		+	ENST00000321990.4	Missense_Mutation	SNP	17 : 29167753 - 29167753 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	640	84
ATP4A	495	broad.mit.edu	37	19	36053403	36053403	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:36053403G>A	ENST00000262623.3	-	4	382	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	118					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGATGGCGGCGGCAACCCACA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	44	47			NA	NA	19		NA											NA				36053403		2203	4299	6502	SO:0001819	synonymous_variant				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.354C>T	19.37:g.36053403G>A		NA	O00738	37	CCDS12467.1																																																																																			ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Silent	SNP	19 : 36053403 - 36053403 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	261	13
AXIN1	8312	broad.mit.edu	37	16	347159	347159	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:347159C>T	ENST00000262320.3	-	7	2223	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E618K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	618	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTGGCACCTCGGTGCTGGCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	210	213			NA	NA	16		NA											NA				347159		2203	4300	6503	SO:0001583	missense			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126	8312	8312		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	903	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 49	603816			NA	9230313	Standard		NM_003502	NA	Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1852G>A	16.37:g.347159C>T	ENSP00000262320:p.Glu618Lys	NA	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676683	0.47886	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.60672	0.17;0.18	4.98	4.02	0.46733	.	0.156231	0.56097	D	0.000026	T	0.45935	0.1367	M	0.61703	1.905	0.41038	D	0.985201	P;P	0.45715	0.865;0.494	B;B	0.28305	0.088;0.029	T	0.47873	-0.9083	10	0.25106	T	0.35	-1.1885	13.1589	0.59533	0.0:0.9217:0.0:0.0782	.	618;618	O15169-2;O15169	.;AXIN1_HUMAN	K	618	ENSP00000262320:E618K;ENSP00000346935:E618K	ENSP00000262320:E618K	E	-	1	0	AXIN1	287160	0.510000	0.26171	0.287000	0.24848	0.008000	0.06430	1.583000	0.36579	1.088000	0.41272	0.478000	0.44815	GAG	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139441.3		-	ENST00000262320.3	Missense_Mutation	SNP	16 : 347159 - 347159 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	1968	446
BFAR	51283	broad.mit.edu	37	16	14749057	14749057	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:14749057G>C	ENST00000563971.1	+	3	559	c.398G>C	c.(397-399)tGg>tCg	p.W133S	BFAR_ENST00000426842.2_Missense_Mutation_p.W130S|BFAR_ENST00000261658.2_Missense_Mutation_p.W258S			Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	258					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CAGAATCTCTGGGAATATAAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	16		NA											NA				14749057		2197	4300	6497	SO:0001583	missense			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429	51283	51283		RING-type (C3HC4) zinc fingers, Sterile alpha motif (SAM) domain containing	17613	protein-coding gene	gene with protein product					NA	10716992	Standard	NM_016561	NM_016561	NA	Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000563971.1:c.398G>C	16.37:g.14749057G>C	ENSP00000454476:p.Trp133Ser	NA	A8K4Z9|D3DUG8	37		.	.	.	.	.	.	.	.	.	.	G	17.53	3.412066	0.62511	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.56776	2.77;0.44	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	T	0.67409	-0.5678	10	0.87932	D	0	.	16.9649	0.86283	0.0:0.0:1.0:0.0	.	130;258;258	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	S	258;130	ENSP00000261658:W258S;ENSP00000400634:W130S	ENSP00000261658:W258S	W	+	2	0	BFAR	14656558	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.561000	0.98142	2.239000	0.73571	0.313000	0.20887	TGG	BFAR-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000422399.1		+	ENST00000563971.1	Missense_Mutation	SNP	16 : 14749057 - 14749057 C PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	510	136
BUB1	699	broad.mit.edu	37	2	111399371	111399371	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:111399371G>T	ENST00000302759.6	-	21	2591	c.2473C>A	c.(2473-2475)Cct>Act	p.P825T	BUB1_ENST00000409311.1_Missense_Mutation_p.P825T|BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000535254.1_Missense_Mutation_p.P805T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	825	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGGTTGGCAGGCTTTTGGACC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	153	149			NA	NA	2		NA											NA				111399371		2203	4300	6503	SO:0001583	missense			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679	699	699			1148	protein-coding gene	gene with protein product		602452	budding uninhibited by benzimidazoles 1 (yeast homolog), budding uninhibited by benzimidazoles 1 homolog (yeast)	BUB1L	NA		Standard	NM_004336	NM_004336	NA	Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2473C>A	2.37:g.111399371G>T	ENSP00000302530:p.Pro825Thr	NA	O43430|O43643|O60626	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326955	0.81690	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759	T;T;T	0.64085	-0.08;2.08;-0.08	6.16	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049093	0.85682	D	0.000000	T	0.80380	0.4612	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.83628	0.0143	10	0.87932	D	0	-15.6873	14.2663	0.66121	0.0712:0.0:0.9288:0.0	.	805;825;825	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	T	805;825;825	ENSP00000441013:P805T;ENSP00000386701:P825T;ENSP00000302530:P825T	ENSP00000302530:P825T	P	-	1	0	BUB1	111115843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.376000	0.73141	1.631000	0.50456	0.650000	0.86243	CCT	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331925.1		-	ENST00000302759.6	Missense_Mutation	SNP	2 : 111399371 - 111399371 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	1067	160
C10orf62	414157	broad.mit.edu	37	10	99350210	99350210	+	Silent	SNP	C	C	A	rs145450971	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:99350210C>A	ENST00000370640.3	+	1	761	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	186							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CCTCACCCAGCGGGAAAACAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	85			NA	NA	10		NA											NA				99350210		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942	414157	414157			23294	protein-coding gene	gene with protein product					NA		Standard	NM_001009997	NM_001009997	NA	Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.556C>A	10.37:g.99350210C>A		NA	Q49A70|Q8N3Y6	37	CCDS31261.1																																																																																			C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049723.1		+	ENST00000370640.3	Silent	SNP	10 : 99350210 - 99350210 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	574	84
CCDC39	339829	broad.mit.edu	37	3	180334120	180334120	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:180334120T>G	ENST00000442201.2	-	19	2737	c.2618A>C	c.(2617-2619)aAa>aCa	p.K873T	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	873	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACGACTGCCTTTTGTGCTAGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	106	108			NA	NA	3		NA											NA				180334120		1874	4112	5986	SO:0001583	missense			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075	339829	339829			25244	protein-coding gene	gene with protein product		613798			NA	21131972	Standard	XM_291028	NM_181426	NA	Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2618A>C	3.37:g.180334120T>G	ENSP00000405708:p.Lys873Thr	NA	B4E2H1	37	CCDS46964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.12|13.12	2.143344|2.143344	0.37825|0.37825	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000473854|ENST00000489868;ENST00000442201	.|.	.|.	.|.	5.23|5.23	0.0174|0.0174	0.14112|0.14112	.|.	.|.	.|.	.|.	.|.	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	1|1	.|B	.|0.13145	.|0.007	.|B	.|0.15484	.|0.013	T|T	0.24297|0.24297	-1.0164|-1.0164	6|8	0.41790|0.21014	T|T	0.15|0.42	.|.	0.3031|0.3031	0.00276|0.00276	0.2106:0.1895:0.2605:0.3393|0.2106:0.1895:0.2605:0.3393	.|.	.|873	.|Q9UFE4	.|CCD39_HUMAN	Q|T	57|45;873	.|.	ENSP00000418482:K57Q|ENSP00000405708:K873T	K|K	-|-	1|2	0|0	CCDC39|CCDC39	181816814|181816814	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.089000|0.089000	0.18198|0.18198	-0.057000|-0.057000	0.11768|0.11768	0.399000|0.399000	0.25367|0.25367	0.374000|0.374000	0.22700|0.22700	AAG|AAA	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349783.3		-	ENST00000442201.2	Missense_Mutation	SNP	3 : 180334120 - 180334120 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	412	152
CDC42	998	broad.mit.edu	37	1	22405018	22405018	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:22405018A>G	ENST00000344548.3	+	3	298	c.47A>G	c.(46-48)aAa>aGa	p.K16R	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_5'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.K16R|CDC42_ENST00000400259.1_Missense_Mutation_p.K16R	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	16					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GCTGTTGGTAAAACATGTCTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	112			NA	NA	1		NA											NA				22405018		2203	4300	6503	SO:0001583	missense			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831	998	998			1736	protein-coding gene	gene with protein product	GTP binding protein, 25kDa	116952	cell division cycle 42 (GTP-binding protein, 25kD), cell division cycle 42 (GTP binding protein, 25kDa)		NA	2124704, 2122236	Standard	NM_001791	NM_001039802	NA	Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.47A>G	1.37:g.22405018A>G	ENSP00000341072:p.Lys16Arg	NA	P21181|P25763|Q7L8R5|Q9UDI2	37	CCDS221.1	.	.	.	.	.	.	.	.	.	.	a	26.3	4.721851	0.89298	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000411827	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	4.91	4.91	0.64330	Small GTP-binding protein domain (1);	0.048902	0.85682	D	0.000000	D	0.98118	0.9379	H	0.99997	5.475	0.80722	D	1	D;D;D	0.71674	0.985;0.998;0.987	D;D;P	0.73380	0.928;0.98;0.88	D	0.98100	1.0414	10	0.87932	D	0	.	13.365	0.60678	1.0:0.0:0.0:0.0	.	16;16;16	B4E1U9;P60953;P60953-1	.;CDC42_HUMAN;.	R	16	ENSP00000383118:K16R;ENSP00000341072:K16R;ENSP00000314458:K16R;ENSP00000398327:K16R	ENSP00000314458:K16R	K	+	2	0	CDC42	22277605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.630000	0.90987	1.854000	0.53819	0.528000	0.53228	AAA	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007787.1		+	ENST00000344548.3	Missense_Mutation	SNP	1 : 22405018 - 22405018 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	591	104
CELF6	60677	broad.mit.edu	37	15	72579635	72579635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:72579635G>A	ENST00000543764.2	-	10	1180	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	CELF6_ENST00000567083.1_Missense_Mutation_p.R446W|CELF6_ENST00000287202.5_Missense_Mutation_p.R473W|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.R360W|CELF6_ENST00000539635.1_Missense_Mutation_p.R334W|CELF6_ENST00000569547.1_Missense_Mutation_p.R473W	NM_001172685.1	NP_001166156.1	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	473					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCCTTGGGCCGCTTTAGCTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	127	130			NA	NA	15		NA											NA				72579635		2199	4297	6496	SO:0001583	missense			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488	60677	60677		RNA binding motif (RRM) containing	14059	protein-coding gene	gene with protein product		612681	Bruno (Drosophila) -like 6, RNA binding protein, bruno-like 6, RNA binding protein (Drosophila)	BRUNOL6	NA	10893231	Standard	NM_052840	NM_052840	NA	Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000543764.2:c.1006C>T	15.37:g.72579635G>A	ENSP00000439956:p.Arg336Trp	NA	Q6PII4|Q6ZNJ7|Q8N607	37	CCDS53955.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234720	0.58886	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000379915;ENST00000395258;ENST00000539635	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	5.79	-1.42	0.08913	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	U	0.000006	T	0.23492	0.0568	M	0.77103	2.36	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.998;0.993;0.985;0.967;0.999	T	0.27226	-1.0080	10	0.87932	D	0	-14.4833	16.9829	0.86333	0.0:0.0:0.6119:0.3881	.	446;336;360;334;473	B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;.;CELF6_HUMAN	W	473;446;336;297;360;334	ENSP00000287202:R473W;ENSP00000439956:R336W;ENSP00000378677:R360W;ENSP00000443162:R334W	ENSP00000287202:R473W	R	-	1	2	CELF6	70366689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.311000	0.33562	0.107000	0.17824	0.561000	0.74099	CGG	CELF6-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420183.1		-	ENST00000543764.2	Missense_Mutation	SNP	15 : 72579635 - 72579635 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	475	99
CIAO1	9391	broad.mit.edu	37	2	96933171	96933171	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:96933171C>T	ENST00000488633.1	+	2	471	c.252C>T	c.(250-252)acC>acT	p.T84T	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur assembly component 1	84					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TTGATGCTACCACTTGCATTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	2		NA											NA				96933171		2203	4300	6503	SO:0001819	synonymous_variant			U63810	CCDS2019.1	2q11.1-q11.2	2014-01-13	2014-01-13	2006-11-23	ENSG00000144021	ENSG00000144021	9391	9391		WD repeat domain containing	14280	protein-coding gene	gene with protein product		604333	WD repeat domain 39, cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae), cytosolic iron-sulfur protein assembly 1	WDR39	NA	9556563, 10493829	Standard	NM_004804	NM_004804	NA	Approved	CIA1	uc002svs.3	O76071	OTTHUMG00000130452	ENST00000488633.1:c.252C>T	2.37:g.96933171C>T		NA	A0MNN9|Q53FM5	37	CCDS2019.1																																																																																			CIAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252843.1		+	ENST00000488633.1	Silent	SNP	2 : 96933171 - 96933171 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	650	167
COL25A1	84570	broad.mit.edu	37	4	109784536	109784536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:109784536C>T	ENST00000399132.1	-	21	1621	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	COL25A1_ENST00000399126.1_Missense_Mutation_p.R364Q|COL25A1_ENST00000399127.1_Missense_Mutation_p.R360Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	364	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGCTTCCCCCCGTTCACCCTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,3672		0,0,1836	45	46	46		1091,1091	4.7	1	4		46	1,8175		0,1,4087	yes	missense,missense	COL25A1	NM_032518.2,NM_198721.1	43,43	0,1,5923	TT,TC,CC	NA	0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	364/643,364/655	109784536	1,11847	1836	4088	5924	SO:0001583	missense			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517	84570	84570		Collagens	18603	protein-coding gene	gene with protein product		610004			NA	11927537	Standard	NM_032518	NM_001256074	NA	Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1091G>A	4.37:g.109784536C>T	ENSP00000382083:p.Arg364Gln	NA	A8MPZ6|Q9BXR9	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472391	0.63737	0.0	1.22E-4	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.93547	-3.24;2.3;-3.24	5.52	4.69	0.59074	.	0.121454	0.50627	D	0.000106	D	0.94019	0.8084	L	0.33293	1	0.42993	D	0.994495	D;D	0.76494	0.999;0.998	D;D	0.79108	0.975;0.992	D	0.93272	0.6652	9	.	.	.	-7.1172	14.6461	0.68762	0.0:0.9299:0.0:0.0701	.	364;364	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	Q	364;366;345;360;364;294	ENSP00000382083:R364Q;ENSP00000382078:R360Q;ENSP00000382077:R364Q	.	R	-	2	0	COL25A1	110003985	0.997000	0.39634	0.997000	0.53966	0.955000	0.61496	2.451000	0.44952	1.332000	0.45431	-0.128000	0.14901	CGG	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315938.2		-	ENST00000399132.1	Missense_Mutation	SNP	4 : 109784536 - 109784536 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	306	73
COL27A1	85301	broad.mit.edu	37	9	117062960	117062960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:117062960G>A	ENST00000356083.3	+	51	5085	c.4694G>A	c.(4693-4695)gGc>gAc	p.G1565D		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1565	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCCACCTGGCTTGATGGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	39	39			NA	NA	9		NA											NA				117062960		2203	4300	6503	SO:0001583	missense			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739	85301	85301		Collagens	22986	protein-coding gene	gene with protein product		608461			NA	12766169	Standard	NM_032888	NM_032888	NA	Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4694G>A	9.37:g.117062960G>A	ENSP00000348385:p.Gly1565Asp	NA	Q66K43|Q96JF7	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667078	0.67814	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99353	-5.77	5.4	5.4	0.78164	.	.	.	.	.	D	0.99694	0.9884	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97360	0.9969	9	0.87932	D	0	.	17.0516	0.86520	0.0:0.0:1.0:0.0	.	1565	Q8IZC6	CORA1_HUMAN	D	1565	ENSP00000348385:G1565D	ENSP00000348385:G1565D	G	+	2	0	COL27A1	116102781	1.000000	0.71417	0.998000	0.56505	0.120000	0.20174	8.906000	0.92626	2.711000	0.92665	0.655000	0.94253	GGC	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053763.1		+	ENST00000356083.3	Missense_Mutation	SNP	9 : 117062960 - 117062960 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	250	39
CORO2B	10391	broad.mit.edu	37	15	68937512	68937512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:68937512C>T	ENST00000543950.1	+	2	368	c.14C>T	c.(13-15)cCg>cTg	p.P5L	CORO2B_ENST00000566799.1_Missense_Mutation_p.P10L|CORO2B_ENST00000261861.5_Missense_Mutation_p.P5L|CORO2B_ENST00000540068.1_Missense_Mutation_p.P5L	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	10					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCTGGCGTCCGCAATACCGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO,LEU/PRO,LEU/PRO	0,4400		0,0,2200	67	59	61		14,14,29	4.4	1	15		61	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	CORO2B	NM_001190456.1,NM_001190457.1,NM_006091.4	98,98,98	0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	5/476,5/476,10/481	68937512	1,12995	2200	4298	6498	SO:0001583	missense			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647	10391	10391		Coronins, WD repeat domain containing	2256	protein-coding gene	gene with protein product	clipin C, coronin, actin-binding, 2B	605002	coronin, actin-binding protein, 2B		NA	10224093, 10231032	Standard	NM_006091	NM_001190456	NA	Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000543950.1:c.14C>T	15.37:g.68937512C>T	ENSP00000443819:p.Pro5Leu	NA	A8K0W3|O94767|Q8TAN1	37	CCDS53952.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518852	0.85495	0.0	1.16E-4	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.56941	0.43;0.43	4.38	4.38	0.52667	.	0.053861	0.85682	D	0.000000	T	0.66147	0.2760	M	0.66939	2.045	0.80722	D	1	P	0.52170	0.951	P	0.57371	0.819	T	0.69394	-0.5157	10	0.51188	T	0.08	-21.1529	15.8812	0.79207	0.0:1.0:0.0:0.0	.	10	Q9UQ03	COR2B_HUMAN	L	10;5;5	ENSP00000446250:P5L;ENSP00000443819:P5L	ENSP00000261861:P10L	P	+	2	0	CORO2B	66724566	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.565000	0.82337	2.142000	0.66516	0.563000	0.77884	CCG	CORO2B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257068.3		+	ENST00000543950.1	Missense_Mutation	SNP	15 : 68937512 - 68937512 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	146	22
DCAF17	80067	broad.mit.edu	37	2	172330428	172330428	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:172330428T>A	ENST00000375255.3	+	10	1361	c.1034T>A	c.(1033-1035)aTc>aAc	p.I345N	DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	345						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TCTGACTGGATCTATTTCCAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	2		NA											NA				172330428		2203	4300	6503	SO:0001583	missense			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827	80067	80067		DDB1 and CUL4 associated factors	25784	protein-coding gene	gene with protein product	Woodhouse-Sakati syndrome	612515	chromosome 2 open reading frame 37	C2orf37	NA		Standard	NM_025000	NM_001164821	NA	Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1034T>A	2.37:g.172330428T>A	ENSP00000364404:p.Ile345Asn	NA	B2RTW5|Q53TN3|Q9H908	37	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.534753|4.534753	0.85812|0.85812	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000429466|ENST00000339506;ENST00000431110	T|.	0.53423|.	0.62|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.048318|.	0.85682|.	D|.	0.000000|.	T|T	0.70579|0.70579	0.3240|0.3240	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.79108|.	0.992|.	T|T	0.69383|0.69383	-0.5160|-0.5160	10|5	0.66056|.	D|.	0.02|.	-10.6448|-10.6448	15.6457|15.6457	0.77049|0.77049	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	345|.	Q5H9S7|.	DCA17_HUMAN|.	N|T	345;95|96;47	ENSP00000364404:I345N|.	ENSP00000364404:I345N|.	I|S	+|+	2|1	0|0	DCAF17|DCAF17	172038674|172038674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.618000|7.618000	0.83043|0.83043	2.075000|2.075000	0.62263|0.62263	0.533000|0.533000	0.62120|0.62120	ATC|TCT	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255342.2		+	ENST00000375255.3	Missense_Mutation	SNP	2 : 172330428 - 172330428 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	369	45
DLG4	1742	broad.mit.edu	37	17	7106623	7106623	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7106623G>A	ENST00000399510.2	-	9	1512	c.660C>T	c.(658-660)ggC>ggT	p.G220G	DLG4_ENST00000302955.6_Silent_p.G174G|DLG4_ENST00000399506.2_Silent_p.G177G|DLG4_ENST00000485100.1_Silent_p.G174G	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	177	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GGTTCCCTACGCCCCCTGCGA	0.587		NA											G	2	9e-04	0.002	NA	2184	0.0017	0.9992	,	,	NA	6e-04	NA	NA	NA	0.001	0.7563	EXOME	NA	NA	5e-04	SNP								NA				0								G	,	0,4036		0,0,2018	70	68	69		522,660	-5.1	0.9	17		69	1,8365		0,1,4182	no	coding-synonymous,coding-synonymous	DLG4	NM_001128827.1,NM_001365.3	,	0,1,6200	AA,AG,GG	NA	0.012,0.0,0.0081	,	174/722,220/768	7106623	1,12401	2018	4183	6201	SO:0001819	synonymous_variant			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535	1742	1742			2903	protein-coding gene	gene with protein product		602887			NA	9286702	Standard	NM_001365	NM_001128827	NA	Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399510.2:c.660C>T	17.37:g.7106623G>A		NA	B7Z1S1|Q92941|Q9UKK8	37	CCDS45599.1																																																																																			DLG4-001	KNOWN	non_canonical_TEC|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259418.2		-	ENST00000399510.2	Silent	SNP	17 : 7106623 - 7106623 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	135	30
DNMBP	23268	broad.mit.edu	37	10	101716827	101716827	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:101716827G>T	ENST00000324109.4	-	4	495	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.S135Y	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	135					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCGCTCTGGGAGTGCCACTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	28			NA	NA	10		NA											NA				101716827		2203	4300	6503	SO:0001583	missense			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554	23268	23268		Rho guanine nucleotide exchange factors	30373	protein-coding gene	gene with protein product	scaffold protein TUBA	611282			NA	10231032, 14506234	Standard	NM_015221	NM_015221	NA	Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.404C>A	10.37:g.101716827G>T	ENSP00000315659:p.Ser135Tyr	NA	Q8IVY3|Q9Y2L3	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785820	0.70337	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.13778	2.61;2.56	5.47	5.47	0.80525	Src homology-3 domain (2);	0.160351	0.29791	N	0.011192	T	0.14141	0.0342	N	0.19112	0.55	0.80722	D	1	P	0.49559	0.925	P	0.47206	0.541	T	0.01212	-1.1417	10	0.66056	D	0.02	-8.7178	15.2145	0.73254	0.0:0.1401:0.8598:0.0	.	135	Q6XZF7	DNMBP_HUMAN	Y	135	ENSP00000344914:S135Y;ENSP00000315659:S135Y	ENSP00000315659:S135Y	S	-	2	0	DNMBP	101706817	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	4.044000	0.57361	2.724000	0.93272	0.561000	0.74099	TCC	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049832.2		-	ENST00000324109.4	Missense_Mutation	SNP	10 : 101716827 - 101716827 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	204	23
EED	8726	broad.mit.edu	37	11	85967469	85967469	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:85967469G>C	ENST00000528180.1	+	5	944	c.467G>C	c.(466-468)aGc>aCc	p.S156T	EED_ENST00000263360.6_Missense_Mutation_p.S156T|EED_ENST00000351625.6_Missense_Mutation_p.S156T|EED_ENST00000327320.4_Missense_Mutation_p.S156T			O75530	EED_HUMAN	embryonic ectoderm development	156	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ACCTATGATAGCAATACGAGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	100	100			NA	NA	11		NA											NA				85967469		2202	4299	6501	SO:0001583	missense			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266	8726	8726		WD repeat domain containing	3188	protein-coding gene	gene with protein product	WD protein associating with integrin cytoplasmic tails 1	605984			NA	9765275, 9806832	Standard	NM_003797	NM_003797	NA	Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000528180.1:c.467G>C	11.37:g.85967469G>C	ENSP00000431778:p.Ser156Thr	NA	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	37		.	.	.	.	.	.	.	.	.	.	G	11.25	1.582457	0.28180	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.087878	0.85682	D	0.000000	T	0.15825	0.0381	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.15235	-1.0444	9	.	.	.	-11.6578	19.5799	0.95461	0.0:0.0:1.0:0.0	.	156;156;156;156	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	T	156	ENSP00000263360:S156T;ENSP00000431778:S156T;ENSP00000338186:S156T;ENSP00000315587:S156T	.	S	+	2	0	EED	85645117	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.041000	0.70988	2.606000	0.88127	0.585000	0.79938	AGC	EED-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393734.1		+	ENST00000528180.1	Missense_Mutation	SNP	11 : 85967469 - 85967469 C PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	422	56
EPB41L3	23136	broad.mit.edu	37	18	5415859	5415859	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr18:5415859G>A	ENST00000341928.2	-	13	2365	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	EPB41L3_ENST00000342933.3_Silent_p.S675S|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	675	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTAGGGAGGCGCTCAAGGAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	84			NA	NA	18		NA											NA				5415859		2203	4300	6503	SO:0001819	synonymous_variant			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397	23136	23136			3380	protein-coding gene	gene with protein product		605331			NA	9828140, 9892180	Standard	NM_012307	NM_012307	NA	Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2025C>T	18.37:g.5415859G>A		NA	O95713|Q9BRP5	37	CCDS11838.1																																																																																			EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254424.1		-	ENST00000341928.2	Silent	SNP	18 : 5415859 - 5415859 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	393	94
EPB42	2038	broad.mit.edu	37	15	43499591	43499591	+	Missense_Mutation	SNP	G	G	A	rs115972761	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:43499591G>A	ENST00000300215.3	-	9	1671	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	EPB42_ENST00000441366.2_Missense_Mutation_p.T375M|EPB42_ENST00000540029.1_Missense_Mutation_p.T297M			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	375					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CAGCCCCAGCGTCCCCTCCTT	0.582		NA											G	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													66	53	58			NA	NA	15		NA											NA				43499591		2203	4299	6502	SO:0001583	missense			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947	2038	2038		Transglutaminases	3381	protein-coding gene	gene with protein product	Erythrocyte surface protein band 4.2	177070			NA	1284644	Standard	NM_000119	NM_000119	NA	Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000300215.3:c.1214C>T	15.37:g.43499591G>A	ENSP00000300215:p.Thr405Met	NA	Q4VB97	37	CCDS10093.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.005	0.555666	0.13436	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366	T;T;T	0.51071	0.72;0.72;0.72	6.02	-12.0	0.00017	.	1.311570	0.04307	N	0.348294	T	0.28333	0.0700	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.27823	0.029;0.068;0.19;0.068	B;B;B;B	0.16289	0.005;0.006;0.015;0.006	T	0.08330	-1.0727	10	0.38643	T	0.18	4.7421	1.2729	0.02025	0.4301:0.1641:0.1298:0.276	.	297;375;405;375	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	M	405;297;375	ENSP00000300215:T405M;ENSP00000444699:T297M;ENSP00000396616:T375M	ENSP00000300215:T405M	T	-	2	0	EPB42	41286883	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.186000	0.03070	-2.622000	0.00439	-0.769000	0.03391	ACG	EPB42-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253201.1		-	ENST00000300215.3	Missense_Mutation	SNP	15 : 43499591 - 43499591 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	252	56
EPPK1	83481	broad.mit.edu	37	8	144945204	144945204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144945204C>T	ENST00000525985.1	-	2	2289	c.2218G>A	c.(2218-2220)Gtg>Atg	p.V740M				P58107	EPIPL_HUMAN	epiplakin 1	740						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACGTCCACGGGCACGCGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	81			NA	NA	8		NA											NA				144945204		2043	4160	6203	SO:0001583	missense			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2218G>A	8.37:g.144945204C>T	ENSP00000436337:p.Val740Met	NA	Q76E58	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.058913	0.76074	.	.	ENSG00000227184	ENST00000525985	T	0.77877	-1.13	5.06	5.06	0.68205	.	.	.	.	.	D	0.89298	0.6675	M	0.87971	2.92	0.32551	N	0.532326	D	0.89917	1.0	D	0.75484	0.986	D	0.91472	0.5197	9	0.59425	D	0.04	.	15.9742	0.80049	0.0:1.0:0.0:0.0	.	740	E9PPU0	.	M	740	ENSP00000436337:V740M	ENSP00000436337:V740M	V	-	1	0	EPPK1	145017192	0.723000	0.28027	1.000000	0.80357	0.892000	0.51952	1.471000	0.35365	2.643000	0.89663	0.655000	0.94253	GTG	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Missense_Mutation	SNP	8 : 144945204 - 144945204 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	606	74
ESAM	90952	broad.mit.edu	37	11	124623837	124623837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:124623837C>T	ENST00000278927.5	-	7	1007	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	293					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGCAGGGTCCGGGGAGCAAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	60	57			NA	NA	11		NA											NA				124623837		2201	4299	6500	SO:0001583	missense			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564	90952	90952		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17474	protein-coding gene	gene with protein product		614281			NA	11279107, 11906820	Standard	NM_138961	NM_138961	NA	Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.878G>A	11.37:g.124623837C>T	ENSP00000278927:p.Arg293Gln	NA	Q96T50	37	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074636	0.76415	.	.	ENSG00000149564	ENST00000278927	T	0.31510	1.49	5.28	3.37	0.38596	.	0.354761	0.28730	N	0.014326	T	0.36936	0.0985	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	T	0.08330	-1.0727	10	0.21014	T	0.42	.	7.9712	0.30127	0.0:0.6063:0.3104:0.0832	.	293	Q96AP7	ESAM_HUMAN	Q	293	ENSP00000278927:R293Q	ENSP00000278927:R293Q	R	-	2	0	ESAM	124129047	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	1.757000	0.38400	0.683000	0.31428	-0.176000	0.13171	CGG	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324686.1		-	ENST00000278927.5	Missense_Mutation	SNP	11 : 124623837 - 124623837 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	187	52
FAM83H	286077	broad.mit.edu	37	8	144808660	144808660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144808660G>A	ENST00000388913.3	-	5	3096	c.2971C>T	c.(2971-2973)Cag>Tag	p.Q991*		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	991					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGTTCTCCTGCGGCACTGGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	13			NA	NA	8		NA											NA				144808660		1971	4118	6089	SO:0001587	stop_gained			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921	286077	286077			24797	protein-coding gene	gene with protein product		611927			NA	18252228	Standard	NM_198488	NM_198488	NA	Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2971C>T	8.37:g.144808660G>A	ENSP00000373565:p.Gln991*	NA	A0JLS2|Q8N4W0	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	25.1	4.597837	0.87055	.	.	ENSG00000180921	ENST00000388913	.	.	.	5.01	5.01	0.66863	.	2.505490	0.02148	N	0.057769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2957	0.49277	0.0:0.0:0.7074:0.2926	.	.	.	.	X	991	.	ENSP00000373565:Q991X	Q	-	1	0	FAM83H	144880648	0.998000	0.40836	0.913000	0.36048	0.106000	0.19336	2.042000	0.41222	2.334000	0.79466	0.550000	0.68814	CAG	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257632.2		-	ENST00000388913.3	Nonsense_Mutation	SNP	8 : 144808660 - 144808660 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	157	37
FBXW5	54461	broad.mit.edu	37	9	139838442	139838442	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:139838442C>G	ENST00000325285.3	-	2	173	c.94G>C	c.(94-96)Gtg>Ctg	p.V32L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	32	F-box.						catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGCGGCACACCAGCCCGGCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	9		NA											NA				139838442		2130	4208	6338	SO:0001583	missense			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069	54461	54461		F-boxes / WD-40 domains, WD repeat domain containing	13613	protein-coding gene	gene with protein product		609072	F-box and WD-40 domain protein 5		NA		Standard	NM_018998	NM_018998	NA	Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.94G>C	9.37:g.139838442C>G	ENSP00000313034:p.Val32Leu	NA	B2RDZ6|Q5SPZ8|Q5SPZ9|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	37	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.867242	0.51588	.	.	ENSG00000159069	ENST00000325285;ENST00000428398;ENST00000443788	T;T;T	0.54479	0.57;0.57;0.57	4.02	3.12	0.35913	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.216848	0.40064	N	0.001182	T	0.60573	0.2279	M	0.91249	3.19	0.26388	N	0.976624	B	0.27286	0.174	B	0.33846	0.171	T	0.57476	-0.7805	10	0.41790	T	0.15	-9.6575	8.9065	0.35526	0.0:0.8956:0.0:0.1044	.	32	Q969U6	FBXW5_HUMAN	L	32	ENSP00000313034:V32L;ENSP00000404829:V32L;ENSP00000394011:V32L	ENSP00000313034:V32L	V	-	1	0	FBXW5	138958263	1.000000	0.71417	0.993000	0.49108	0.588000	0.36517	3.941000	0.56607	0.902000	0.36520	0.479000	0.44913	GTG	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055227.1		-	ENST00000325285.3	Missense_Mutation	SNP	9 : 139838442 - 139838442 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	50	12
FMN2	56776	broad.mit.edu	37	1	240370125	240370125	+	Silent	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:240370125A>G	ENST00000319653.9	+	5	2243	c.2013A>G	c.(2011-2013)ggA>ggG	p.G671G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	671					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTCTGAGGGACAGGCCACTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	1		NA											NA				240370125		2203	4300	6503	SO:0001819	synonymous_variant			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816	56776	56776			14074	protein-coding gene	gene with protein product		606373			NA	10781961	Standard	XM_371352	NM_020066	NA	Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2013A>G	1.37:g.240370125A>G		NA	B0QZA7|Q59GF6|Q5VU37|Q9NZ55	37	CCDS31069.2																																																																																			FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096217.2		+	ENST00000319653.9	Silent	SNP	1 : 240370125 - 240370125 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	295	45
FURIN	5045	broad.mit.edu	37	15	91419516	91419516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:91419516G>A	ENST00000268171.3	+	3	488	c.209G>A	c.(208-210)cGa>cAa	p.R70Q		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	70					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCTGGCATCGAGGAGTGACG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	84	82			NA	NA	15		NA											NA				91419516		2198	4298	6496	SO:0001583	missense			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564	5045	5045			8568	protein-coding gene	gene with protein product		136950	paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)	PCSK3, FUR, PACE	NA	2251280, 1741956	Standard	NM_002569	NM_002569	NA	Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.209G>A	15.37:g.91419516G>A	ENSP00000268171:p.Arg70Gln	NA	Q14336|Q6LBS3|Q9UCZ5	37	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441351	0.63067	.	.	ENSG00000140564	ENST00000268171	T	0.31510	1.49	4.58	4.58	0.56647	Proteinase inhibitor, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.69248	2.105	0.58432	D	0.999998	D	0.59767	0.986	P	0.48738	0.588	T	0.45629	-0.9248	10	0.59425	D	0.04	-2.4622	15.8038	0.78477	0.0:0.0:1.0:0.0	.	70	P09958	FURIN_HUMAN	Q	70	ENSP00000268171:R70Q	ENSP00000268171:R70Q	R	+	2	0	FURIN	89220520	0.978000	0.34361	0.999000	0.59377	0.083000	0.17756	2.778000	0.47726	2.396000	0.81511	0.555000	0.69702	CGA	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313492.1		+	ENST00000268171.3	Missense_Mutation	SNP	15 : 91419516 - 91419516 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	825	134
GAD1	2571	broad.mit.edu	37	2	171687567	171687567	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:171687567G>T	ENST00000358196.3	+	5	962	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.V138L|GAD1_ENST00000375272.1_Missense_Mutation_p.V138L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	138					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCCACCAAGGTGCTGGACTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	99	104			NA	NA	2		NA											NA				171687567		2203	4300	6503	SO:0001583	missense				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	2571	2571	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	glutamate decarboxylase 1 (brain, 67kD)	GAD	NA	1549570	Standard		XM_005246443	NA	Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.412G>T	2.37:g.171687567G>T	ENSP00000350928:p.Val138Leu	NA	Q53TQ7|Q9BU91|Q9UHH4	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180048	0.94846	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.44083	0.93;0.93;0.93	5.9	5.9	0.94986	Pyridoxal phosphate-dependent transferase, major domain (1);	0.167622	0.51477	D	0.000087	T	0.53818	0.1820	M	0.75615	2.305	0.80722	D	1	B;P	0.35348	0.023;0.496	B;B	0.40228	0.088;0.323	T	0.56854	-0.7910	10	0.87932	D	0	-18.4861	20.2673	0.98463	0.0:0.0:1.0:0.0	.	138;138	Q99259;Q99259-3	DCE1_HUMAN;.	L	138	ENSP00000350928:V138L;ENSP00000364421:V138L;ENSP00000341167:V138L	ENSP00000341167:V138L	V	+	1	0	GAD1	171395813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.638000	0.83328	2.786000	0.95864	0.643000	0.83706	GTG	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102664.2		+	ENST00000358196.3	Missense_Mutation	SNP	2 : 171687567 - 171687567 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	550	75
GCM2	9247	broad.mit.edu	37	6	10882008	10882008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:10882008G>A	ENST00000379491.4	-	1	166	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	7					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACCGCTTCCTGCACCGCGGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	34			NA	NA	6		NA											NA				10882008		2201	4300	6501	SO:0001587	stop_gained			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827	9247	9247			4198	protein-coding gene	gene with protein product		603716	glial cells missing (Drosophila) homolog b	GCMB	NA	9928992	Standard		NM_004752	NA	Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.19C>T	6.37:g.10882008G>A	ENSP00000368805:p.Gln7*	NA	Q5THN5	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409039	0.96072	.	.	ENSG00000124827	ENST00000379491	.	.	.	5.23	3.37	0.38596	.	0.740013	0.12306	N	0.480643	.	.	.	.	.	.	0.22552	N	0.998994	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	0.1498	8.3322	0.32193	0.0:0.401:0.476:0.123	.	.	.	.	X	7	.	ENSP00000368805:Q7X	Q	-	1	0	GCM2	10989994	0.000000	0.05858	0.008000	0.14137	0.053000	0.15095	0.153000	0.16323	1.155000	0.42497	0.561000	0.74099	CAG	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039844.1		-	ENST00000379491.4	Nonsense_Mutation	SNP	6 : 10882008 - 10882008 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	269	42
GLB1	2720	broad.mit.edu	37	3	33038656	33038656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:33038656C>T	ENST00000399402.3	-	16	1956	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	GLB1_ENST00000307363.5_Missense_Mutation_p.V639M|GLB1_ENST00000445488.2_Missense_Mutation_p.V687M|GLB1_ENST00000307377.8_Missense_Mutation_p.V508M	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	639					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGCCTGTCCACGAACGTCACA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	3		NA											NA				33038656		2065	4194	6259	SO:0001583	missense			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	2720	2720	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	elastin receptor 1, 67kDa, elastin receptor 1 (67kD)	ELNR1	NA	110522, 3143362	Standard	NM_000404	NM_000404	NA	Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1825G>A	3.37:g.33038656C>T	ENSP00000382333:p.Val609Met	NA	B2R7H8|B7Z6B0|P16279	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241095	0.39598	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83	5.44	4.54	0.55810	Galactose-binding domain-like (1);	0.238643	0.42964	D	0.000639	D	0.94971	0.8373	M	0.67700	2.07	0.37730	D	0.925223	D;D;D;D	0.64830	0.987;0.994;0.987;0.987	P;P;P;P	0.46299	0.46;0.511;0.46;0.46	D	0.95168	0.8287	10	0.48119	T	0.1	-10.5338	15.5983	0.76606	0.0:0.8614:0.1386:0.0	.	639;508;639;687	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	M	609;639;687;508	ENSP00000382333:V609M;ENSP00000306920:V639M;ENSP00000393377:V687M;ENSP00000305920:V508M	ENSP00000306920:V639M	V	-	1	0	GLB1	33013660	0.991000	0.36638	0.794000	0.32065	0.166000	0.22503	2.596000	0.46205	1.253000	0.44018	0.555000	0.69702	GTG	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341570.2		-	ENST00000399402.3	Missense_Mutation	SNP	3 : 33038656 - 33038656 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	451	85
GLMN	11146	broad.mit.edu	37	1	92737124	92737124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:92737124A>G	ENST00000370360.3	-	8	902	c.821T>C	c.(820-822)tTt>tCt	p.F274S	GLMN_ENST00000534881.1_Missense_Mutation_p.F274S	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	274	Poly-Glu.				muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCTTCTTCAAATTCAAGGTA	0.353		NA							Multiple Glomus Tumors (of the Skin), Familial					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	151	152			NA	NA	1		NA											NA				92737124		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842	11146	11146			14373	protein-coding gene	gene with protein product		601749	venous malformation with glomus cells	VMGLOM	NA	8955134	Standard	NM_007070	XM_005270400	NA	Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.821T>C	1.37:g.92737124A>G	ENSP00000359385:p.Phe274Ser	NA	Q5VVC3|Q9BVE8	37	CCDS738.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171313	0.57584	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.47528	0.84;0.84	5.08	5.08	0.68730	.	0.151067	0.64402	D	0.000010	T	0.38081	0.1027	L	0.56769	1.78	0.40471	D	0.980344	P;P	0.43633	0.813;0.492	P;B	0.44647	0.456;0.193	T	0.35076	-0.9803	10	0.45353	T	0.12	-13.5471	14.0348	0.64638	1.0:0.0:0.0:0.0	.	274;274	B4DJ85;Q92990	.;GLMN_HUMAN	S	274	ENSP00000359385:F274S;ENSP00000440156:F274S	ENSP00000359385:F274S	F	-	2	0	GLMN	92509712	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.565000	0.67365	1.902000	0.55061	0.482000	0.46254	TTT	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028358.1		-	ENST00000370360.3	Missense_Mutation	SNP	1 : 92737124 - 92737124 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	489	92
GPR124	25960	broad.mit.edu	37	8	37692836	37692836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:37692836G>A	ENST00000412232.2	+	12	1766	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	585					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACCTGAGCCCGAGCCCCCAGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	32			NA	NA	8		NA											NA				37692836		2202	4300	6502	SO:0001583	missense			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181	25960	25960		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17849	protein-coding gene	gene with protein product	tumor endothelial marker 5	606823			NA	11559528, 12565841	Standard		NM_032777	NA	Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1753G>A	8.37:g.37692836G>A	ENSP00000406367:p.Glu585Lys	NA	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481400	0.84747	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.57907	0.37	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.55545	0.1927	N	0.22421	0.69	0.58432	D	0.999996	D	0.76494	0.999	P	0.57679	0.825	T	0.53920	-0.8370	10	0.34782	T	0.22	-25.1986	18.6353	0.91376	0.0:0.0:1.0:0.0	.	585	Q96PE1	GP124_HUMAN	K	578;585	ENSP00000406367:E585K	ENSP00000406367:E585K	E	+	1	0	GPR124	37811994	1.000000	0.71417	0.565000	0.28409	0.052000	0.14988	7.123000	0.77176	2.507000	0.84556	0.655000	0.94253	GAG	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343331.2		+	ENST00000412232.2	Missense_Mutation	SNP	8 : 37692836 - 37692836 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	138	19
GPR151	134391	broad.mit.edu	37	5	145895652	145895652	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:145895652A>C	ENST00000311104.2	-	1	101	c.25T>G	c.(25-27)Tct>Gct	p.S9A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	9						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGTTAGAGTCTGCAAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(78;420 1386 18535 37114 49710)							NA				0													83	90	87			NA	NA	5		NA											NA				145895652		2203	4300	6503	SO:0001583	missense			AY255557	CCDS34266.1	5q32	2012-08-21					134391	134391		GPCR / Class A : Orphans	23624	protein-coding gene	gene with protein product	galanin receptor 4				NA	12679517	Standard	NM_194251	NM_194251	NA	Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.25T>G	5.37:g.145895652A>C	ENSP00000308733:p.Ser9Ala	NA	Q86SN8|Q8NGV2	37	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	2.160	-0.392320	0.04932	.	.	ENSG00000173250	ENST00000311104	T	0.37915	1.17	5.9	3.48	0.39840	.	0.650871	0.16005	N	0.234105	T	0.25082	0.0609	L	0.54323	1.7	0.21967	N	0.999449	B	0.06786	0.001	B	0.06405	0.002	T	0.36529	-0.9744	10	0.07482	T	0.82	.	2.9555	0.05875	0.6321:0.1483:0.0774:0.1422	.	9	Q8TDV0	GP151_HUMAN	A	9	ENSP00000308733:S9A	ENSP00000308733:S9A	S	-	1	0	GPR151	145875845	0.992000	0.36948	0.959000	0.39883	0.576000	0.36127	1.388000	0.34442	0.465000	0.27167	-0.353000	0.07706	TCT	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373457.1		-	ENST00000311104.2	Missense_Mutation	SNP	5 : 145895652 - 145895652 C PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	858	116
GPR98	84059	broad.mit.edu	37	5	89977223	89977223	+	Silent	SNP	T	T	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:89977223T>C	ENST00000405460.2	+	27	5712	c.5616T>C	c.(5614-5616)ttT>ttC	p.F1872F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1872					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTCACTCTTTGTCAGTGGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	91			NA	NA	5		NA											NA				89977223		1887	4112	5999	SO:0001819	synonymous_variant			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5616T>C	5.37:g.89977223T>C		NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1																																																																																			GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Silent	SNP	5 : 89977223 - 89977223 C PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	196	32
GPX5	2880	broad.mit.edu	37	6	28493824	28493824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:28493824delC	ENST00000412168.2	+	1	123	c.34delC	c.(34-36)cccfs	p.P12fs	GPX6_ENST00000483058.1_Intron|GPX5_ENST00000469384.1_Frame_Shift_Del_p.P12fs	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	12					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCATCTGCTTCCCCTTCTCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													324	265	285			NA	NA	6		NA											NA				28493824		2203	4300	6503	SO:0001589	frameshift_variant			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	2880	2880	1.11.1.9		4557	protein-coding gene	gene with protein product		603435			NA	9639555	Standard		NM_001509	NA	Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.34delC	6.37:g.28493824delC	ENSP00000392398:p.Pro12fs	NA		37	CCDS4652.1																																																																																			GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043672.2		+	ENST00000412168.2	Frame_Shift_Del	DEL	6 : 28493824 - 28493824 - PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	1213	185
GUCY2F	2986	broad.mit.edu	37	X	108636151	108636151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:108636151G>A	ENST00000218006.2	-	13	2849	c.2558C>T	c.(2557-2559)aCg>aTg	p.T853M		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	853					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGCTTTTCCGTTTTCTGTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	176	188			NA	NA	X		NA											NA				108636151		2203	4300	6503	SO:0001583	missense			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890	2986	2986			4691	protein-coding gene	gene with protein product	guanylate cyclase 2D-like, membrane (retina-specific)	300041			NA	8838319, 7777544	Standard	NM_001522	NM_001522	NA	Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2558C>T	X.37:g.108636151G>A	ENSP00000218006:p.Thr853Met	NA	Q9UJF1	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527147	0.64860	.	.	ENSG00000101890	ENST00000218006	D	0.90385	-2.66	4.25	3.36	0.38483	Haem NO binding associated (1);Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.108904	0.64402	D	0.000008	D	0.94473	0.8221	M	0.87097	2.86	0.58432	D	0.999998	D	0.65815	0.995	P	0.61874	0.895	D	0.94367	0.7592	10	0.87932	D	0	.	10.33	0.43816	0.0:0.0:0.8025:0.1975	.	853	P51841	GUC2F_HUMAN	M	853	ENSP00000218006:T853M	ENSP00000218006:T853M	T	-	2	0	GUCY2F	108522807	1.000000	0.71417	0.962000	0.40283	0.997000	0.91878	5.507000	0.66999	1.079000	0.41038	0.513000	0.50165	ACG	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057884.1		-	ENST00000218006.2	Missense_Mutation	SNP	X : 108636151 - 108636151 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	277	122
GZMM	3004	broad.mit.edu	37	19	547332	547332	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:547332G>A	ENST00000264553.3	+	2	146	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	36	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCCACTCGCGCCCGTACA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	19		NA											NA				547332		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540	3004	3004			4712	protein-coding gene	gene with protein product	lymphocyte met-ase 1	600311			NA	8119738	Standard	NM_005317	NM_005317	NA	Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.108G>A	19.37:g.547332G>A		NA		37	CCDS12031.1																																																																																			GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451895.2		+	ENST00000264553.3	Silent	SNP	19 : 547332 - 547332 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	551	27
HEXIM1	10614	broad.mit.edu	37	17	43226570	43226570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43226570T>C	ENST00000332499.2	+	1	1887	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	5					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCGAGCCATTCTTGTCAGA	0.458		NA									OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	100	95			NA	NA	17		NA											NA				43226570		2203	4296	6499	SO:0001583	missense			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834	10614	10614			24953	protein-coding gene	gene with protein product		607328			NA	12119119, 12832472	Standard	NM_006460	NM_006460	NA	Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.13T>C	17.37:g.43226570T>C	ENSP00000328773:p.Phe5Leu	914	B2R8Y5	37	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	T	0.625	-0.819580	0.02776	.	.	ENSG00000186834	ENST00000332499	.	.	.	3.94	1.93	0.25924	.	.	.	.	.	T	0.08758	0.0217	N	0.02011	-0.69	0.19575	N	0.999967	B	0.02656	0.0	B	0.01281	0.0	T	0.37596	-0.9699	8	0.02654	T	1	-0.0421	5.2187	0.15356	0.0:0.727:0.0:0.273	.	5	O94992	HEXI1_HUMAN	L	5	.	ENSP00000328773:F5L	F	+	1	0	HEXIM1	40582353	0.400000	0.25295	0.983000	0.44433	0.946000	0.59487	0.061000	0.14366	0.997000	0.38969	-0.242000	0.12053	TTC	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449821.2		+	ENST00000332499.2	Missense_Mutation	SNP	17 : 43226570 - 43226570 C PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	956	324
HSD3B1	3283	broad.mit.edu	37	1	120056677	120056677	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:120056677C>T	ENST00000369413.3	+	4	676	c.531C>T	c.(529-531)ggC>ggT	p.G177G	HSD3B1_ENST00000528909.1_Silent_p.G177G|HSD3B1_ENST00000235547.6_Silent_p.G179G			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	177					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGAAAAACGGCGGCACCCTGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	70	70			NA	NA	1		NA											NA				120056677		2203	4300	6503	SO:0001819	synonymous_variant			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	3283	3283	1.1.1.145, 5.3.3.1	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	5217	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 11E, member 1	109715		HSDB3, HSD3B	NA	2779585, 19027726	Standard	NM_000862	NM_000862	NA	Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.531C>T	1.37:g.120056677C>T		NA	A8K691|Q14545|Q8IV65	37	CCDS903.1																																																																																			HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034993.3		+	ENST00000369413.3	Silent	SNP	1 : 120056677 - 120056677 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	525	100
IGSF10	285313	broad.mit.edu	37	3	151155880	151155880	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:151155880C>A	ENST00000282466.3	-	6	6468	c.6469G>T	c.(6469-6471)Gac>Tac	p.D2157Y	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2157	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGCTGTGTCTCCAGCTTTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	104	108			NA	NA	3		NA											NA				151155880		2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6469G>T	3.37:g.151155880C>A	ENSP00000282466:p.Asp2157Tyr	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170322	0.57584	.	.	ENSG00000152580	ENST00000282466	T	0.30714	1.52	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.270973	0.25968	N	0.027154	T	0.51669	0.1688	L	0.47016	1.485	0.58432	D	0.999999	D;D	0.63880	0.993;0.984	D;P	0.68192	0.956;0.847	T	0.47787	-0.9090	10	0.87932	D	0	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	2157;184	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	Y	2157	ENSP00000282466:D2157Y	ENSP00000282466:D2157Y	D	-	1	0	IGSF10	152638570	1.000000	0.71417	0.734000	0.30879	0.291000	0.27294	5.741000	0.68638	2.775000	0.95449	0.655000	0.94253	GAC	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151155880 - 151155880 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	611	79
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61L(73)|p.Q61R(56)|p.Q61P(12)	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)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	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	141	Substitution - Missense(141)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)											109	97	101			NA	NA	12		NA											NA				25380276		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.182A>G	12.37:g.25380276T>C	ENSP00000308495:p.Gln61Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380276 - 25380276 C PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	551	153
LCP1	3936	broad.mit.edu	37	13	46701838	46701838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:46701838C>T	ENST00000398576.2	-	19	2160	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	LCP1_ENST00000435666.2_Missense_Mutation_p.R160Q|LCP1_ENST00000323076.2_Missense_Mutation_p.R591Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	591	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCAATTTTTCGGGCCATAGA	0.488		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													153	148	150			NA	NA	13		NA											NA				46701838		2203	4300	6503	SO:0001583	missense			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167	3936	3936		EF-hand domain containing	6528	protein-coding gene	gene with protein product	plastin 2	153430			NA	2111166	Standard	NM_002298	NM_002298	NA	Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1772G>A	13.37:g.46701838C>T	ENSP00000381581:p.Arg591Gln	NA	B2R613|Q5TBN4	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	36	5.769574	0.96914	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.94650	-3.48;-3.48;-3.48	5.54	5.54	0.83059	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.98204	1.0469	10	0.66056	D	0.02	-8.2981	18.8301	0.92135	0.0:1.0:0.0:0.0	.	160;591	B4DUA0;P13796	.;PLSL_HUMAN	Q	591;591;160	ENSP00000315757:R591Q;ENSP00000381581:R591Q;ENSP00000405134:R160Q	ENSP00000315757:R591Q	R	-	2	0	LCP1	45599839	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.776000	0.85560	2.764000	0.94973	0.655000	0.94253	CGA	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044800.3		-	ENST00000398576.2	Missense_Mutation	SNP	13 : 46701838 - 46701838 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	877	118
LPCAT3	10162	broad.mit.edu	37	12	7091020	7091020	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:7091020C>A	ENST00000261407.4	-	4	497	c.412G>T	c.(412-414)Gat>Tat	p.D138Y		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	138					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CACTTGATATCGTAGTTGCCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	142	152			NA	NA	12		NA											NA				7091020		2203	4300	6503	SO:0001583	missense			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684	10162	10162			30244	protein-coding gene	gene with protein product		611950	O-acyltransferase (membrane bound) domain containing 5, membrane bound O-acyltransferase domain containing 5	OACT5, MBOAT5	NA	8723724, 9074930, 18195019	Standard	NM_005768	NM_005768	NA	Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.412G>T	12.37:g.7091020C>A	ENSP00000261407:p.Asp138Tyr	NA	B2RDH0|Q7KZS1|Q92980|Q9BW40	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700633	0.30142	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87121	0.2191	10	0.56958	D	0.05	-20.8345	19.1925	0.93672	0.0:1.0:0.0:0.0	.	138	Q6P1A2	MBOA5_HUMAN	Y	138	ENSP00000261407:D138Y	ENSP00000261407:D138Y	D	-	1	0	LPCAT3	6961281	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.320000	0.79064	2.767000	0.95098	0.655000	0.94253	GAT	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401812.1		-	ENST00000261407.4	Missense_Mutation	SNP	12 : 7091020 - 7091020 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	402	10
MAGEA3	4102	broad.mit.edu	37	X	151935450	151935450	+	Missense_Mutation	SNP	C	C	G	rs34645170		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:151935450C>G	ENST00000393902.3	-	3	1284	c.717G>C	c.(715-717)ttG>ttC	p.L239F	MAGEA3_ENST00000370278.3_Missense_Mutation_p.L239F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	239	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATCCCCCAAGATACTGT	0.537		NA											c	15	0.01	NA	0.0036	1659	0.0023	0.9979	,	,	NA	3e-04	0.02	NA	NA	0.0076	0.8698	LOWCOV	NA	NA	0.0029	SNP								NA				0								C	PHE/LEU	1,3833		0,1,0,1631,570	148	142	144		717	-2.8	0	X	dbSNP_126	144	1,6720		0,0,1,2428,1864	no	missense	MAGEA3	NM_005362.3	22	0,1,1,4059,2434	GG,GC,G,CC,C	NA	0.0149,0.0261,0.0189	benign	239/315	151935450	2,10553	2202	4293	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.717G>C	X.37:g.151935450C>G	ENSP00000377480:p.Leu239Phe	NA	Q6FHI6	37	CCDS14715.1	15	0.009041591320072333	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	13	0.017150395778364115	c	0.243	-1.012051	0.02095	2.61E-4	1.49E-4	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.04970	3.52;3.52	1.42	-2.84	0.05751	.	0.537671	0.21492	N	0.073674	T	0.00468	0.0015	N	0.00176	-1.92	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39781	-0.9597	9	0.09843	T	0.71	.	2.2524	0.04047	0.4558:0.312:0.2323:0.0	rs34645170	239	P43357	MAGA3_HUMAN	F	239	ENSP00000359301:L239F;ENSP00000377480:L239F	ENSP00000359301:L239F	L	-	3	2	MAGEA3	151686106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.375000	0.02563	-0.539000	0.06273	-1.891000	0.00535	TTG	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058744.1		-	ENST00000393902.3	Missense_Mutation	SNP	X : 151935450 - 151935450 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	369	163
MC3R	4159	broad.mit.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											171	162	165			NA	NA	20		NA											NA				54824818		2203	4300	6503	SO:0001583	missense				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089	4159	4159		GPCR / Class A : Melanocortin receptors	6931	protein-coding gene	gene with protein product		155540			NA	8463333	Standard		NM_019888	NA	Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.919C>T	20.37:g.54824818C>T	ENSP00000243911:p.Arg307Cys	NA	Q4KN27|Q9H517	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079786.2		+	ENST00000243911.2	Missense_Mutation	SNP	20 : 54824818 - 54824818 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	1324	55
MUC16	94025	broad.mit.edu	37	19	9070332	9070332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:9070332G>A	ENST00000397910.4	-	3	17317	c.17114C>T	c.(17113-17115)gCg>gTg	p.A5705V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5707	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						TTCTGTGTGCGCAGTGTCTTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	3,4189		0,3,2093	166	162	163		17114	-1.2	0	19		163	0,8422		0,0,4211	yes	missense	MUC16	NM_024690.2	64	0,3,6304	AA,AG,GG	NA	0.0,0.0716,0.0238	possibly-damaging	5705/14508	9070332	3,12611	2096	4211	6307	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.17114C>T	19.37:g.9070332G>A	ENSP00000381008:p.Ala5705Val	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.554	0.287072	0.10513	7.16E-4	0.0	ENSG00000181143	ENST00000397910	T	0.17854	2.25	1.54	-1.16	0.09678	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	.	.	.	P	0.44578	0.838	B	0.24155	0.051	T	0.31806	-0.9930	8	0.87932	D	0	.	3.5904	0.07986	0.0:0.2807:0.4342:0.285	.	5705	B5ME49	.	V	5705	ENSP00000381008:A5705V	ENSP00000381008:A5705V	A	-	2	0	MUC16	8931332	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.207000	0.09384	-0.197000	0.10350	0.456000	0.33151	GCG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9070332 - 9070332 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	492	65
NMT1	4836	broad.mit.edu	37	17	43174523	43174523	+	Silent	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43174523C>A	ENST00000592782.1	+	7	755	c.624C>A	c.(622-624)ccC>ccA	p.P208P	NMT1_ENST00000590114.1_Intron|NMT1_ENST00000258960.2_Silent_p.P208P			P30419	NMT1_HUMAN	N-myristoyltransferase 1	208					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GCTGGCTCCCCCAGTGGCACT	0.597		NA									OREG0024469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	96			NA	NA	17		NA											NA				43174523		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448	4836	4836			7857	protein-coding gene	gene with protein product	alternative, short form NMT-S, myristoyl-CoA:protein N-myristoyltransferase, long form, NMT-L	160993			NA	1570339	Standard	NM_021079	NM_021079	NA	Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.624C>A	17.37:g.43174523C>A		914	A8K7C1|Q9UE09	37	CCDS11494.1																																																																																			NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449239.1		+	ENST00000592782.1	Silent	SNP	17 : 43174523 - 43174523 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	821	110
NRSN1	140767	broad.mit.edu	37	6	24146060	24146060	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:24146060C>T	ENST00000378491.4	+	4	775	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	158					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.I158I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AAGAACGAATCGCAGACATCA	0.498		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)											60	62	61			NA	NA	6		NA											NA				24146060		2203	4300	6503	SO:0001819	synonymous_variant			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954	140767	140767			17881	protein-coding gene	gene with protein product			vesicular membrane protein p24	VMP	NA	12463420	Standard	NM_080723	NM_080723	NA	Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.474C>T	6.37:g.24146060C>T		NA	B2RAV4|Q8N8R6|Q96P21	37	CCDS4549.1																																																																																			NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043866.1		+	ENST00000378491.4	Silent	SNP	6 : 24146060 - 24146060 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	336	52
NTF3	4908	broad.mit.edu	37	12	5603687	5603687	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:5603687C>T	ENST00000423158.3	+	2	558	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R103W	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	103					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CAACTCACCGCGGGTCCTGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(194;1104 2182 8339 9578 18493)							NA				0													53	58	56			NA	NA	12		NA											NA				5603687		2203	4300	6503	SO:0001583	missense				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652	4908	4908		Endogenous ligands	8023	protein-coding gene	gene with protein product		162660			NA	1889806	Standard		NM_002527	NA	Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000423158.3:c.346C>T	12.37:g.5603687C>T	ENSP00000397297:p.Arg116Trp	NA	Q6FH50	37	CCDS44806.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403819	0.62288	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.48201	0.82;0.82	5.52	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	M	0.89904	3.07	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77156	-0.2691	10	0.72032	D	0.01	-12.4294	12.7492	0.57298	0.4323:0.5677:0.0:0.0	.	103;116	P20783;B7Z1T5	NTF3_HUMAN;.	W	116;103	ENSP00000397297:R116W;ENSP00000328738:R103W	ENSP00000328738:R103W	R	+	1	2	NTF3	5473948	0.915000	0.31059	1.000000	0.80357	0.992000	0.81027	1.904000	0.39868	0.660000	0.30964	0.591000	0.81541	CGG	NTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400484.2		+	ENST00000423158.3	Missense_Mutation	SNP	12 : 5603687 - 5603687 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	476	61
OR52K2	119774	broad.mit.edu	37	11	4471098	4471098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:4471098G>A	ENST00000325719.4	+	1	574	c.529G>A	c.(529-531)Gct>Act	p.A177T		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAGTGATCGCTCACTGCTA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													247	195	212			NA	NA	11		NA											NA				4471098		2201	4298	6499	SO:0001583	missense			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963	119774	119774		GPCR / Class A : Olfactory receptors	15223	protein-coding gene	gene with protein product					NA		Standard	NM_001005172	NM_001005172	NA	Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.529G>A	11.37:g.4471098G>A	ENSP00000318956:p.Ala177Thr	NA	A8MUY8|B2RP35|Q6IFK4	37	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828372	0.50845	.	.	ENSG00000181963	ENST00000325719	T	0.00107	8.72	4.0	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.154049	0.30085	N	0.010452	T	0.00178	0.0005	L	0.41415	1.275	0.09310	N	1	D	0.53151	0.958	P	0.52343	0.696	T	0.50250	-0.8850	10	0.72032	D	0.01	.	5.1676	0.15094	0.1064:0.0:0.5869:0.3067	.	177	Q8NGK3	O52K2_HUMAN	T	177	ENSP00000318956:A177T	ENSP00000318956:A177T	A	+	1	0	OR52K2	4427674	0.000000	0.05858	0.994000	0.49952	0.921000	0.55340	-0.481000	0.06552	2.054000	0.61138	0.485000	0.47835	GCT	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385844.1		+	ENST00000325719.4	Missense_Mutation	SNP	11 : 4471098 - 4471098 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	590	105
PCDHGA6	56109	broad.mit.edu	37	5	140755877	140755877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:140755877G>A	ENST00000517434.1	+	1	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			protocadherin gamma subfamily A, 6	NA								p.V743M(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGAAGGGGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											75	80	78			NA	NA	5		NA											NA				140755877		2203	4300	6503	SO:0001583	missense			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731	56109	56109		Cadherins / Protocadherins : Clustered	8704	other	protocadherin		606293			NA	10380929	Standard	NM_018919	NM_018919	NA	Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2227G>A	5.37:g.140755877G>A	ENSP00000429601:p.Val743Met	NA		37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	7.493	0.651010	0.14516	.	.	ENSG00000253731	ENST00000517434	T	0.50548	0.74	5.15	-0.377	0.12501	.	0.398307	0.14856	N	0.294369	T	0.45115	0.1326	M	0.81497	2.545	0.20638	N	0.99987	B;B	0.30482	0.095;0.281	B;B	0.24394	0.053;0.043	T	0.40997	-0.9533	10	0.51188	T	0.08	.	9.8004	0.40761	0.4966:0.0:0.5034:0.0	.	743;743	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	M	743	ENSP00000429601:V743M	ENSP00000429601:V743M	V	+	1	0	PCDHGA6	140736061	0.000000	0.05858	0.756000	0.31282	0.025000	0.11179	-0.171000	0.09883	0.011000	0.14865	-0.812000	0.03155	GTG	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374743.1		+	ENST00000517434.1	Missense_Mutation	SNP	5 : 140755877 - 140755877 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	468	66
PEG3	5178	broad.mit.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	ovary(2)											106	83	91			NA	NA	19		NA											NA				57328017		2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1793G>A	19.37:g.57328017C>T	ENSP00000326581:p.Arg598His	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57328017 - 57328017 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	342	62
PKDCC	91461	broad.mit.edu	37	2	42281326	42281326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:42281326C>T	ENST00000294964.5	+	3	1093	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S		NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	305	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GGAGGAGACGCCGTGTGCAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	51	56			NA	NA	2		NA											NA				42281326		2203	4300	6503	SO:0001583	missense				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878	91461	91461			25123	protein-coding gene	gene with protein product	vertebrate lonesome kinase	614150	protein kinase domain containing, cytoplasmic homolog (mouse)		NA	19097194, 19465597	Standard		NM_138370	NA	Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.913C>T	2.37:g.42281326C>T	ENSP00000294964:p.Pro305Ser	NA	D6W5A0|Q96I09	37	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	C	8.736	0.917815	0.17982	.	.	ENSG00000162878	ENST00000294964	.	.	.	5.08	5.08	0.68730	Protein kinase, catalytic domain (1);	0.270435	0.42548	D	0.000699	T	0.33352	0.0860	N	0.21194	0.64	0.45015	D	0.998034	B	0.30326	0.276	B	0.29267	0.1	T	0.13764	-1.0497	9	0.07482	T	0.82	-25.5501	10.9735	0.47452	0.0:0.9047:0.0:0.0953	.	305	Q504Y2	PKDCC_HUMAN	S	305	.	ENSP00000294964:P305S	P	+	1	0	PKDCC	42134830	0.232000	0.23762	0.252000	0.24328	0.754000	0.42855	1.211000	0.32382	2.367000	0.80283	0.561000	0.74099	CCG	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325745.3		+	ENST00000294964.5	Missense_Mutation	SNP	2 : 42281326 - 42281326 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	77	11
PRKDC	5591	broad.mit.edu	37	8	48790345	48790345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:48790345C>T	ENST00000523565.1	-	0	5358				PRKDC_ENST00000314191.2_Missense_Mutation_p.R1767Q|PRKDC_ENST00000338368.3_Missense_Mutation_p.R1767Q			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	NA					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGCTGTTCCCGACAAAGAAC	0.383		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(79;1091 1253 12329 31680 40677)							NA				0													125	121	122			NA	NA	8		NA											NA				48790345		1868	4103	5971	SO:0001623	5_prime_UTR_variant				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	5591	5591	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	NA	7638222	Standard	NM_001081640	NM_001081640	NA	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.-8150G>A	8.37:g.48790345C>T		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37		.	.	.	.	.	.	.	.	.	.	C	31	5.098326	0.94197	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.63580	-0.05;-0.05	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.83324	-0.0016	10	0.87932	D	0	.	19.7092	0.96085	0.0:1.0:0.0:0.0	.	1767;1768	E7EUY0;P78527	.;PRKDC_HUMAN	Q	1767	ENSP00000313420:R1767Q;ENSP00000345182:R1767Q	ENSP00000313420:R1767Q	R	-	2	0	PRKDC	48952898	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	5.203000	0.65174	2.664000	0.90586	0.585000	0.79938	CGG	PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48790345 - 48790345 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	796	48
PTPRS	5802	broad.mit.edu	37	19	5210704	5210704	+	Silent	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:5210704G>T	ENST00000587303.1	-	33	5446	c.5347C>A	c.(5347-5349)Cgg>Agg	p.R1783R	PTPRS_ENST00000372412.4_Silent_p.R1784R|PTPRS_ENST00000592099.1_Silent_p.R1336R|PTPRS_ENST00000357368.4_Silent_p.R1783R|PTPRS_ENST00000353284.2_Silent_p.R1336R|PTPRS_ENST00000588012.1_Silent_p.R1745R|PTPRS_ENST00000262963.6_Silent_p.R1763R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Silent_p.R1745R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1783	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCCATCTCCCGCAGCTTGGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	70	75			NA	NA	19		NA											NA				5210704		2203	4300	6503	SO:0001819	synonymous_variant			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5347C>A	19.37:g.5210704G>T		NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1																																																																																			PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Silent	SNP	19 : 5210704 - 5210704 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	353	90
PUS7L	83448	broad.mit.edu	37	12	44142334	44142334	+	Missense_Mutation	SNP	G	G	A	rs143739935	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:44142334G>A	ENST00000416848.2	-	3	1477	c.989C>T	c.(988-990)tCg>tTg	p.S330L	PUS7L_ENST00000553166.1_Missense_Mutation_p.S330L|PUS7L_ENST00000344862.5_Missense_Mutation_p.S330L|PUS7L_ENST00000431332.3_Missense_Mutation_p.S17L|PUS7L_ENST00000551923.1_Missense_Mutation_p.S330L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	330					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACTAAAATCCGAAGGAATAAC	0.348		NA											G	3	0.0014	NA	NA	2184	NA	1	,	,	NA	2e-04	0.004	NA	NA	0.0014	1	EXOME	NA	NA	7e-04	SNP								NA				0								G	LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	117	117	117		989,989,989	4.9	1	12	dbSNP_134	117	20,8580	14.6+/-50.1	0,20,4280	yes	missense,missense,missense	PUS7L	NM_001098614.1,NM_001098615.1,NM_031292.3	145,145,145	0,20,6482	AA,AG,GG	NA	0.2326,0.0,0.1538	probably-damaging,probably-damaging,probably-damaging	330/702,330/702,330/702	44142334	20,12984	2202	4300	6502	SO:0001583	missense			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317	83448	83448			25276	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_031292	NM_001098615	NA	Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.989C>T	12.37:g.44142334G>A	ENSP00000415899:p.Ser330Leu	NA	Q05CU0|Q6AHZ3|Q6NUP2	37	CCDS8743.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	25.6	4.658329	0.88154	0.0	0.002326	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156;ENST00000553166	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.86	4.86	0.63082	Pseudouridine synthase, catalytic domain (1);	0.135257	0.52532	D	0.000074	T	0.66858	0.2832	M	0.79693	2.465	0.58432	D	0.999999	D	0.89917	1.0	D	0.69142	0.962	T	0.70051	-0.4978	10	0.52906	T	0.07	-1.7808	18.8708	0.92313	0.0:0.0:1.0:0.0	.	330	Q9H0K6	PUS7L_HUMAN	L	330;330;330;17;17;17;330	ENSP00000415899:S330L;ENSP00000343081:S330L;ENSP00000447706:S330L;ENSP00000398497:S17L;ENSP00000449222:S17L;ENSP00000450341:S17L;ENSP00000446865:S330L	ENSP00000343081:S330L	S	-	2	0	PUS7L	42428601	1.000000	0.71417	0.980000	0.43619	0.983000	0.72400	7.429000	0.80309	2.612000	0.88384	0.563000	0.77884	TCG	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403931.1		-	ENST00000416848.2	Missense_Mutation	SNP	12 : 44142334 - 44142334 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	521	198
PXDNL	137902	broad.mit.edu	37	8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	23	22			NA	NA	8		NA											NA				52321614		2025	4143	6168	SO:0001583	missense				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485	137902	137902		Immunoglobulin superfamily / I-set domain containing	26359	protein-coding gene	gene with protein product	polysomal ribonuclease 1 homolog (Xenopus)	615904	peroxidasin homolog-like (Drosophila)		NA	22543864	Standard	NM_144651	NM_144651	NA	Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2570C>T	8.37:g.52321614G>A	ENSP00000348645:p.Ala857Val	NA	B5ME43|B6CGZ3|Q6ZMR2|Q96LH9	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	7.521	0.656623	0.14580	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.49	0.493	0.16878	.	0.753446	0.11213	N	0.587551	T	0.38746	0.1052	N	0.11756	0.17	0.09310	N	1	P	0.37398	0.593	B	0.29862	0.108	T	0.15009	-1.0452	10	0.30854	T	0.27	.	4.9674	0.14098	0.2166:0.1744:0.609:0.0	.	857	A1KZ92	PXDNL_HUMAN	V	857	ENSP00000348645:A857V;ENSP00000444865:A857V	ENSP00000348645:A857V	A	-	2	0	PXDNL	52484167	0.814000	0.29104	0.000000	0.03702	0.000000	0.00434	3.338000	0.52128	-0.162000	0.10964	-1.087000	0.02190	GCG	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377905.1		-	ENST00000356297.4	Missense_Mutation	SNP	8 : 52321614 - 52321614 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	223	78
RBL1	5933	broad.mit.edu	37	20	35695516	35695516	+	Silent	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:35695516G>T	ENST00000373664.3	-	5	631	c.565C>A	c.(565-567)Cgg>Agg	p.R189R	RBL1_ENST00000344359.3_Silent_p.R189R	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	189					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAATCATCCGAAAATTACCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	68	67			NA	NA	20		NA											NA				35695516		2203	4300	6503	SO:0001819	synonymous_variant			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839	5933	5933			9893	protein-coding gene	gene with protein product		116957			NA	1833063	Standard	NM_002895	NM_183404	NA	Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.565C>A	20.37:g.35695516G>T		NA	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	37	CCDS13289.1																																																																																			RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079067.2		-	ENST00000373664.3	Silent	SNP	20 : 35695516 - 35695516 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	332	45
RGMA	56963	broad.mit.edu	37	15	93588562	93588562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:93588562C>T	ENST00000556658.1	-	5	1512	c.692G>A	c.(691-693)cGc>cAc	p.R231H	RGMA_ENST00000538818.1_Missense_Mutation_p.R231H|RGMA_ENST00000543599.1_Missense_Mutation_p.R324H|RGMA_ENST00000425933.2_Missense_Mutation_p.R324H|RGMA_ENST00000329082.7_Missense_Mutation_p.R340H|RGMA_ENST00000542321.2_Missense_Mutation_p.R324H|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.R348H			Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	340					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCCAGCCTGCGGGCACCGGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3970		0,0,1985	16	21	19		1043,971,971,971,971,1019	-1	0	15		19	5,8321		0,5,4158	no	missense,missense,missense,missense,missense,missense	RGMA	NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2	29,29,29,29,29,29	0,5,6143	TT,TC,CC	NA	0.0601,0.0,0.0407	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	348/459,324/435,324/435,324/435,324/435,340/451	93588562	5,12291	1985	4163	6148	SO:0001583	missense			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175	56963	56963			30308	protein-coding gene	gene with protein product		607362	RGM domain family, member A		NA	15975920	Standard	NM_020211	NM_020211	NA	Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000556658.1:c.692G>A	15.37:g.93588562C>T	ENSP00000456290:p.Arg231His	NA	B2RTW1|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	37		.	.	.	.	.	.	.	.	.	.	C	10.84	1.464028	0.26335	0.0	6.01E-4	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.82;-2.83;-2.44;-2.83	4.4	-0.978	0.10279	Repulsive guidance molecule, C-terminal (1);	0.646923	0.14204	N	0.334497	T	0.81138	0.4760	N	0.14661	0.345	0.09310	N	1	D;P	0.53151	0.958;0.952	P;P	0.49597	0.616;0.564	T	0.74038	-0.3793	10	0.11794	T	0.64	-24.0079	5.3558	0.16059	0.0:0.4763:0.1344:0.3894	.	348;340	G3V518;Q96B86	.;RGMA_HUMAN	H	324;324;340;324;231;348	ENSP00000442498:R324H;ENSP00000404442:R324H;ENSP00000330005:R340H;ENSP00000440025:R324H;ENSP00000442546:R231H;ENSP00000452126:R348H	ENSP00000330005:R340H	R	-	2	0	RGMA	91389566	0.004000	0.15560	0.003000	0.11579	0.011000	0.07611	0.075000	0.14686	-0.582000	0.05929	-0.658000	0.03865	CGC	RGMA-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415097.2		-	ENST00000556658.1	Missense_Mutation	SNP	15 : 93588562 - 93588562 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	94	43
RTN3	10313	broad.mit.edu	37	11	63472339	63472339	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:63472339C>T	ENST00000377819.5	+	2	313	c.159C>T	c.(157-159)tcC>tcT	p.S53S	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Silent_p.S53S|RTN3_ENST00000538995.1_Intron|RTN3_ENST00000339997.4_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	53					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTGTTTCTTCCTCTTCCTCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													256	235	242			NA	NA	11		NA											NA				63472339		1830	4089	5919	SO:0001819	synonymous_variant			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318	10313	10313			10469	protein-coding gene	gene with protein product	neuroendocrine-specific protein-like 2, NSP-like protein II, isoforme III, ASY interacting protein, homolog of ASY protein	604249			NA	10331947	Standard	NM_006054	NM_006054	NA	Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.159C>T	11.37:g.63472339C>T		NA	B3KQS2|B7Z308|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	37	CCDS58141.1																																																																																			RTN3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397846.1		+	ENST00000377819.5	Silent	SNP	11 : 63472339 - 63472339 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	672	163
SERPINA3	12	broad.mit.edu	37	14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:95080911G>A	ENST00000467132.1	+	2	1281	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	SERPINA3_ENST00000393078.3_Missense_Mutation_p.V45M|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V45M|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	45					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V45M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											121	118	119			NA	NA	14		NA											NA				95080911		2203	4300	6503	SO:0001583	missense			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136	12	12		Serine (or cysteine) peptidase inhibitors	16	protein-coding gene	gene with protein product		107280	alpha-1-antichymotrypsin, serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	AACT	NA	3260956, 24172014	Standard	NM_001085	NM_001085	NA	Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.133G>A	14.37:g.95080911G>A	ENSP00000450540:p.Val45Met	NA	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404725	0.42613	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.68	-0.036	0.13890	Serpin domain (1);	1.940150	0.03623	U	0.236685	T	0.81418	0.4818	N	0.19112	0.55	0.09310	N	1	D;P	0.53885	0.963;0.661	B;B	0.43809	0.432;0.154	T	0.72527	-0.4266	10	0.72032	D	0.01	.	10.9606	0.47383	0.0825:0.5309:0.3866:0.0	.	45;70	P01011;G3V5I3	AACT_HUMAN;.	M	70;45;45;45;45;45	ENSP00000452367:V70M;ENSP00000376793:V45M;ENSP00000376795:V45M;ENSP00000450540:V45M	ENSP00000369712:V45M	V	+	1	0	SERPINA3	94150664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.456000	0.06754	0.073000	0.16731	0.561000	0.74099	GTG	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268080.3		+	ENST00000467132.1	Missense_Mutation	SNP	14 : 95080911 - 95080911 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	958	156
SIK3	23387	broad.mit.edu	37	11	116729339	116729339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:116729339G>A	ENST00000446921.2	-	20	2643				SIK3_ENST00000434315.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.R842W|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.R900W|SIK3_ENST00000375288.1_Intron	NM_001281749.1	NP_001268678.1	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	NA						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGGGAACCCCGGGACTGGTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	79	77			NA	NA	11		NA											NA				116729339		2201	4296	6497	SO:0001627	intron_variant			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584	23387	23387			29165	protein-coding gene	gene with protein product		614776			NA	10231032, 8889548	Standard	NM_025164	NM_025164	NA	Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000446921.2:c.2622-104C>T	11.37:g.116729339G>A		NA	Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.240336|4.240336	0.79912|0.79912	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177|ENST00000375300;ENST00000292055	.|T;T	.|0.73363	.|-0.7;-0.74	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.38217	.|U	.|0.001766	T|T	0.71492|0.71492	0.3346|0.3346	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.99	.|P;B	.|0.50049	.|0.629;0.306	T|T	0.75379|0.75379	-0.3338|-0.3338	5|10	.|0.87932	.|D	.|0	.|.	14.5942|14.5942	0.68392|0.68392	0.0:0.0:0.8541:0.1459|0.0:0.0:0.8541:0.1459	.|.	.|842;842	.|Q9Y2K2-3;Q9Y2K2	.|.;SIK3_HUMAN	L|W	941|900;842	.|ENSP00000364449:R900W;ENSP00000292055:R842W	.|ENSP00000292055:R842W	P|R	-|-	2|1	0|2	SIK3|SIK3	116234549|116234549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.705000|6.705000	0.74644|0.74644	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	CCG|CGG	SIK3-014	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000319396.2		-	ENST00000446921.2	Intron	SNP	11 : 116729339 - 116729339 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	682	99
SLC6A4	6532	broad.mit.edu	37	17	28537580	28537580	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:28537580C>A	ENST00000401766.2	-	10	1914	c.1402G>T	c.(1402-1404)Gcc>Tcc	p.A468S	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A468S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	468					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATGACCACGGCGAGCACGAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	98	103			NA	NA	17		NA											NA				28537580		2203	4300	6503	SO:0001583	missense			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576	6532	6532		Solute carriers	11050	protein-coding gene	gene with protein product	serotonin transporter 1	182138	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4, 5-hydroxytryptamine (serotonin) transporter, obsessive-compulsive disorder 1	HTT, OCD1	NA	7681602, 19806148	Standard	NM_001045	NM_001045	NA	Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1402G>T	17.37:g.28537580C>A	ENSP00000385822:p.Ala468Ser	NA		37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248984	0.22880	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.74632	-0.86;-0.86	6.04	-0.373	0.12516	.	0.664706	0.17075	N	0.188038	T	0.50786	0.1636	N	0.21324	0.655	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.22521	-1.0214	10	0.17369	T	0.5	.	3.284	0.06925	0.1179:0.3322:0.3805:0.1694	.	468	P31645	SC6A4_HUMAN	S	510;468;468	ENSP00000385822:A468S;ENSP00000261707:A468S	ENSP00000261707:A468S	A	-	1	0	SLC6A4	25561706	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	0.560000	0.23500	-0.236000	0.09753	0.561000	0.74099	GCC	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256115.3		-	ENST00000401766.2	Missense_Mutation	SNP	17 : 28537580 - 28537580 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	392	176
SLC8A3	6547	broad.mit.edu	37	14	70634760	70634760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:70634760C>T	ENST00000381269.2	-	2	1133	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	SLC8A3_ENST00000356921.2_Missense_Mutation_p.R127Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R127Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R127Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R127Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	127					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTCCAGACCCGAATAGTGGT	0.483		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0													109	97	101			NA	NA	14		NA											NA				70634760		2203	4300	6503	SO:0001583	missense			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678	6547	6547		Solute carriers	11070	protein-coding gene	gene with protein product		607991			NA	8798769	Standard		XM_005268017	NA	Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.380G>A	14.37:g.70634760C>T	ENSP00000370669:p.Arg127Gln	NA	Q8IUE9|Q8IUF0|Q8NFI7	37	CCDS35498.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.9	4.070178	0.76301	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.48	5.48	0.80851	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.997;0.998;0.993;0.993	D	0.87094	0.2174	10	0.62326	D	0.03	.	19.3613	0.94440	0.0:1.0:0.0:0.0	.	127;127;127;127	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	127	ENSP00000349392:R127Q;ENSP00000370669:R127Q;ENSP00000350560:R127Q;ENSP00000436688:R127Q;ENSP00000433531:R127Q	ENSP00000349392:R127Q	R	-	2	0	SLC8A3	69704513	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.811000	0.86092	2.573000	0.86826	0.650000	0.86243	CGG	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390736.1		-	ENST00000381269.2	Missense_Mutation	SNP	14 : 70634760 - 70634760 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	400	52
SRPK1	6732	broad.mit.edu	37	6	35810348	35810348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:35810348C>T	ENST00000373825.2	-	14	1939	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	SRPK1_ENST00000423325.2_Missense_Mutation_p.E536K|SRPK1_ENST00000373822.1_Missense_Mutation_p.E444K			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	552	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E551Q(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GAATGAGGTTCAAACAAATAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(31;67 978 16289 24856 26454)							NA				1	Substitution - Missense(1)	lung(1)											79	73	75			NA	NA	6		NA											NA				35810348		1904	4127	6031	SO:0001583	missense			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063	6732	6732			11305	protein-coding gene	gene with protein product	SR protein kinase 1, serine/arginine-rich splicing factor kinase 1	601939	SFRS protein kinase 1		NA	8208298, 10198174	Standard	NM_003137	NM_003137	NA	Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1654G>A	6.37:g.35810348C>T	ENSP00000362931:p.Glu552Lys	NA	Q12890|Q5R364|Q5R365|Q8IY12	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529797	0.96446	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.58764	0.2145	N	0.11154	0.105	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.991	T	0.70425	-0.4875	9	0.87932	D	0	-17.1778	19.0463	0.93020	0.0:1.0:0.0:0.0	.	536;552	B4DS61;Q96SB4	.;SRPK1_HUMAN	K	552;568;536;444	ENSP00000362931:E552K;ENSP00000354674:E568K;ENSP00000391069:E536K;ENSP00000362928:E444K	ENSP00000354674:E568K	E	-	1	0	SRPK1	35918326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.572000	0.86782	0.491000	0.48974	GAA	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040319.3		-	ENST00000373825.2	Missense_Mutation	SNP	6 : 35810348 - 35810348 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	207	39
TCN2	6948	broad.mit.edu	37	22	31011344	31011344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:31011344C>T	ENST00000405742.3	+	5	805	c.625C>T	c.(625-627)Cct>Tct	p.P209S	TCN2_ENST00000407817.3_Missense_Mutation_p.P186S|TCN2_ENST00000215838.3_Missense_Mutation_p.P213S	NM_000355.3	NP_000346.2	P20062	TCO2_HUMAN	transcobalamin II	213					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTTCAACCCTGGTCGGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	77	80			NA	NA	22		NA											NA				31011344		2203	4300	6503	SO:0001583	missense				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339	6948	6948			11653	protein-coding gene	gene with protein product	macrocytic anemia	613441	transcobalamin II; macrocytic anemia		NA	1708393, 7742531	Standard	NM_000355	NM_000355	NA	Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000405742.3:c.625C>T	22.37:g.31011344C>T	ENSP00000385914:p.Pro209Ser	NA	Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	37		.	.	.	.	.	.	.	.	.	.	C	10.23	1.293005	0.23564	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.33865	1.39;1.39;1.39	5.82	2.59	0.31030	.	0.407958	0.29684	N	0.011470	T	0.20129	0.0484	N	0.22421	0.69	0.80722	D	1	B;B;B	0.27166	0.17;0.113;0.113	B;B;B	0.30029	0.11;0.031;0.031	T	0.05386	-1.0888	10	0.14252	T	0.57	-3.8544	5.8302	0.18577	0.1552:0.6812:0.0:0.1636	.	186;209;213	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	S	213;209;186	ENSP00000215838:P213S;ENSP00000385914:P209S;ENSP00000384914:P186S	ENSP00000215838:P213S	P	+	1	0	TCN2	29341344	0.001000	0.12720	0.636000	0.29352	0.333000	0.28666	0.476000	0.22180	0.357000	0.24183	0.561000	0.74099	CCT	TCN2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321283.1		+	ENST00000405742.3	Missense_Mutation	SNP	22 : 31011344 - 31011344 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	538	79
TMC3	342125	broad.mit.edu	37	15	81654605	81654605	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:81654605A>G	ENST00000558726.1	-	4	485	c.350T>C	c.(349-351)gTg>gCg	p.V117A	TMC3_ENST00000359440.5_Missense_Mutation_p.V117A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	117						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAAGATGACCACAAAGTTACA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	83	85			NA	NA	15		NA											NA				81654605		1973	4155	6128	SO:0001583	missense			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869	342125	342125			22995	protein-coding gene	gene with protein product					NA	12906855, 12812529	Standard	NM_181841	NM_001080532	NA	Approved		uc021ssk.1	Q7Z5M5		ENST00000558726.1:c.350T>C	15.37:g.81654605A>G	ENSP00000452681:p.Val117Ala	NA	Q7Z405	37		.	.	.	.	.	.	.	.	.	.	A	10.65	1.409904	0.25465	.	.	ENSG00000188869	ENST00000359440	T	0.63580	-0.05	5.26	4.15	0.48705	.	0.183784	0.34268	N	0.004111	T	0.40448	0.1117	N	0.16743	0.435	0.30774	N	0.742708	B;B	0.14012	0.0;0.009	B;B	0.12156	0.002;0.007	T	0.33445	-0.9868	10	0.15066	T	0.55	-11.5679	7.9842	0.30202	0.8433:0.0:0.1567:0.0	.	117;117	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	A	117	ENSP00000352413:V117A	ENSP00000352413:V117A	V	-	2	0	TMC3	79441660	0.967000	0.33354	0.990000	0.47175	0.990000	0.78478	3.776000	0.55356	0.856000	0.35383	0.455000	0.32223	GTG	TMC3-004	NOVEL	NAGNAG_splice_site|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000439656.1		-	ENST00000558726.1	Missense_Mutation	SNP	15 : 81654605 - 81654605 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	161	7
TMEM151A	256472	broad.mit.edu	37	11	66062807	66062807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:66062807G>A	ENST00000327259.4	+	2	1234	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	364						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTCGGAGGCCGTGGTCATGGG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	8	8			NA	NA	11		NA											NA				66062807		2124	4151	6275	SO:0001583	missense			BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292	256472	256472			28497	protein-coding gene	gene with protein product			transmembrane protein 151	TMEM151	NA	12477932	Standard	NM_153266	NM_153266	NA	Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.1090G>A	11.37:g.66062807G>A	ENSP00000326244:p.Val364Met	NA	Q8ND14	37	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	7.944	0.743434	0.15642	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.14	2.04	0.26737	.	0.189097	0.36167	N	0.002755	T	0.14570	0.0352	N	0.10916	0.065	0.29651	N	0.843971	B	0.21905	0.062	B	0.14023	0.01	T	0.12553	-1.0543	9	0.17369	T	0.5	.	4.6644	0.12659	0.1644:0.0:0.6246:0.211	.	364	Q8N4L1	T151A_HUMAN	M	364	.	ENSP00000326244:V364M	V	+	1	0	TMEM151A	65819383	0.997000	0.39634	0.962000	0.40283	0.992000	0.81027	2.403000	0.44530	0.944000	0.37579	0.462000	0.41574	GTG	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391897.1		+	ENST00000327259.4	Missense_Mutation	SNP	11 : 66062807 - 66062807 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	32	4
TMTC4	84899	broad.mit.edu	37	13	101289837	101289837	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:101289837G>A	ENST00000328767.5	-	6	648	c.564C>T	c.(562-564)acC>acT	p.T188T	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Silent_p.T299T|TMTC4_ENST00000342624.5_Silent_p.T318T			Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	299						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTCCACCTCGGTGAAGGCCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	68	66			NA	NA	13		NA											NA				101289837		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247	84899	84899		Tetratricopeptide (TTC) repeat domain containing	25904	protein-coding gene	gene with protein product					NA		Standard	NM_032813	XM_005254082	NA	Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000328767.5:c.564C>T	13.37:g.101289837G>A		NA	A6NLI7|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	37																																																																																				TMTC4-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355027.1		-	ENST00000328767.5	Silent	SNP	13 : 101289837 - 101289837 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	680	205
TP53	7157	broad.mit.edu	37	17	7578254	7578254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7578254C>A	ENST00000420246.2	-	6	727	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G199*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; 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.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(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)		CGCAAATTTCCTTCCACTCGG	0.547		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				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	33	Substitution - Missense(9)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Substitution - Nonsense(3)|Deletion - In frame(1)|Complex - frameshift(1)|Insertion - In frame(1)	central_nervous_system(6)|biliary_tract(5)|bone(4)|oesophagus(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)|large_intestine(1)|pancreas(1)											117	104	108			NA	NA	17		NA											NA				7578254		2203	4300	6503	SO:0001587	stop_gained	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.595G>T	17.37:g.7578254C>A	ENSP00000391127:p.Gly199*	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	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620630	0.46736	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	4.32	0.51571	.	0.052866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2871	12.0218	0.53348	0.0:0.9154:0.0:0.0846	.	.	.	.	X	199;199;199;199;199;199;188;106;67;106;67	.	ENSP00000269305:G199X	G	-	1	0	TP53	7518979	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	7.775000	0.85489	1.374000	0.46228	-0.253000	0.11424	GGA	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578254 - 7578254 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	364	126
TRRAP	8295	broad.mit.edu	37	7	98609827	98609827	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:98609827T>A	ENST00000446306.3	+	70	11457	c.11396T>A	c.(11395-11397)cTg>cAg	p.L3799Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.L3781Q|TRRAP_ENST00000359863.4_Missense_Mutation_p.L3810Q			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3810	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGTGTCCCTGGTTCAGAAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	57	59			NA	NA	7		NA											NA				98609827		2203	4300	6503	SO:0001583	missense			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367	8295	8295			12347	protein-coding gene	gene with protein product		603015			NA	9708738, 9885574	Standard	NM_003496	NM_003496	NA	Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000446306.3:c.11396T>A	7.37:g.98609827T>A	ENSP00000403708:p.Leu3799Gln	NA	A4D265|O75218|Q9Y631|Q9Y6H4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.30|14.30	2.495074|2.495074	0.44352|0.44352	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	D;D|.	0.84298|.	-1.83;-1.83|.	5.44|5.44	4.27|4.27	0.50696|0.50696	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.62024|0.62024	0.2394|0.2394	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P;D|.	0.60160|.	0.987;0.956;0.978|.	P;P;P|.	0.62089|.	0.898;0.601;0.737|.	T|T	0.58323|0.58323	-0.7656|-0.7656	10|5	0.18710|.	T|.	0.47|.	.|.	12.5371|12.5371	0.56147|0.56147	0.0:0.0:0.1395:0.8605|0.0:0.0:0.1395:0.8605	.|.	3781;3538;3810|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|R	3810;3781;3798|3539	ENSP00000352925:L3810Q;ENSP00000347733:L3781Q|.	ENSP00000347733:L3781Q|.	L|W	+|+	2|1	0|0	TRRAP|TRRAP	98447763|98447763	1.000000|1.000000	0.71417|0.71417	0.167000|0.167000	0.22817|0.22817	0.021000|0.021000	0.10359|0.10359	7.690000|7.690000	0.84178|0.84178	0.881000|0.881000	0.35993|0.35993	-0.313000|-0.313000	0.08912|0.08912	CTG|TGG	TRRAP-004	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317981.3		+	ENST00000446306.3	Missense_Mutation	SNP	7 : 98609827 - 98609827 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	235	11
TTN	7273	broad.mit.edu	37	2	179638314	179638314	+	Missense_Mutation	SNP	C	C	T	rs148920986	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:179638314C>T	ENST00000589042.1	-	32	7693	c.7469G>A	c.(7468-7470)cGt>cAt	p.R2490H	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2490H|TTN_ENST00000360870.5_Missense_Mutation_p.R2490H|TTN_ENST00000460472.2_Missense_Mutation_p.R2444H|TTN_ENST00000359218.5_Missense_Mutation_p.R2444H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R2444H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R2490H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2219	Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTACACGGTCATCAGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	133	138			NA	NA	2		NA											NA				179638314		2203	4300	6503	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.7469G>A	2.37:g.179638314C>T	ENSP00000467141:p.Arg2490His	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031724	0.35797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70334	0.3212	M	0.70903	2.155	0.31701	N	0.640681	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.74348	0.947;0.947;0.947;0.971;0.983	T	0.72988	-0.4124	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2444;2444;2444;2490;2490	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2490;2444;2444;2444;2444;2490	ENSP00000343764:R2490H;ENSP00000434586:R2444H;ENSP00000340554:R2444H;ENSP00000352154:R2444H;ENSP00000354117:R2490H	ENSP00000340554:R2444H	R	-	2	0	TTN	179346559	1.000000	0.71417	0.966000	0.40874	0.554000	0.35429	7.818000	0.86416	2.765000	0.95021	0.650000	0.86243	CGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179638314 - 179638314 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	529	13
UNC79	57578	broad.mit.edu	37	14	94120314	94120314	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:94120314G>A	ENST00000553484.1	+	39	6562	c.6408G>A	c.(6406-6408)tcG>tcA	p.S2136S	UNC79_ENST00000555664.1_Silent_p.S2075S|UNC79_ENST00000393151.2_Silent_p.S2114S|UNC79_ENST00000256339.4_Silent_p.S1937S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2114						integral to membrane		p.S2136S(1)|p.S1937S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTAGCCTCGTCTCTGATGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(2)											160	148	152			NA	NA	14		NA											NA				94120314		2203	4300	6503	SO:0001819	synonymous_variant			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.6408G>A	14.37:g.94120314G>A		NA	Q6ZUT7	37																																																																																				UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Silent	SNP	14 : 94120314 - 94120314 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	1104	186
XYLT2	64132	broad.mit.edu	37	17	48435627	48435627	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:48435627G>A	ENST00000017003.2	+	10	2050	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	667					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGTTACTGGGGCCGCTGGACG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	23			NA	NA	17		NA											NA				48435627		2202	4298	6500	SO:0001819	synonymous_variant			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	64132	64132	2.4.2.26		15517	protein-coding gene	gene with protein product	protein xylosyltransferase 2	608125			NA	11099377	Standard	NM_022167	NM_022167	NA	Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2001G>A	17.37:g.48435627G>A		NA	Q6UY41|Q86V00	37	CCDS11563.1																																																																																			XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367046.1		+	ENST00000017003.2	Silent	SNP	17 : 48435627 - 48435627 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	207	40
ZFHX3	463	broad.mit.edu	37	16	72830417	72830417	+	Missense_Mutation	SNP	G	G	A	rs144401383		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:72830417G>A	ENST00000268489.5	-	9	6836	c.6164C>T	c.(6163-6165)cCg>cTg	p.P2055L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1141L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2055					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCTGAGGCGGCGCTGCCGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO,LEU/PRO	1,4389		0,1,2194	29	32	31		3422,6164	5.4	0.1	16	dbSNP_134	31	0,8582		0,0,4291	no	missense,missense	ZFHX3	NM_001164766.1,NM_006885.3	98,98	0,1,6485	AA,AG,GG	NA	0.0,0.0228,0.0077	possibly-damaging,possibly-damaging	1141/2790,2055/3704	72830417	1,12971	2195	4291	6486	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6164C>T	16.37:g.72830417G>A	ENSP00000268489:p.Pro2055Leu	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258120	0.10239	2.28E-4	0.0	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74947	-0.89;-0.89	5.4	5.4	0.78164	.	0.000000	0.46442	D	0.000284	T	0.73830	0.3637	L	0.46157	1.445	0.80722	D	1	D	0.57899	0.981	P	0.46685	0.524	T	0.73626	-0.3923	10	0.36615	T	0.2	.	18.7943	0.91988	0.0:0.0:1.0:0.0	.	2055	Q15911	ZFHX3_HUMAN	L	2055;1141	ENSP00000268489:P2055L;ENSP00000438926:P1141L	ENSP00000268489:P2055L	P	-	2	0	ZFHX3	71387918	1.000000	0.71417	0.099000	0.21106	0.103000	0.19146	7.142000	0.77339	2.523000	0.85059	0.655000	0.94253	CCG	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72830417 - 72830417 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	512	64
ZNF385D	79750	broad.mit.edu	37	3	21462858	21462858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:21462858C>T	ENST00000281523.2	-	8	1554	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	346	Poly-Ala.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						actgctgctgcggctgctgca	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	3		NA											NA				21462858		2203	4300	6503	SO:0001583	missense			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789	79750	79750			26191	protein-coding gene	gene with protein product			zinc finger protein 659	ZNF659	NA	12477932	Standard	NM_024697	NM_024697	NA	Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1036G>A	3.37:g.21462858C>T	ENSP00000281523:p.Ala346Thr	NA		37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	8.978	0.974663	0.18736	.	.	ENSG00000151789	ENST00000281523	T	0.33865	1.39	6.08	6.08	0.98989	.	0.053442	0.85682	D	0.000000	T	0.31009	0.0783	L	0.34521	1.04	0.48452	D	0.999653	B	0.25390	0.125	B	0.13407	0.009	T	0.05582	-1.0876	10	0.19590	T	0.45	-47.3476	20.6593	0.99626	0.0:1.0:0.0:0.0	.	346	Q9H6B1	Z385D_HUMAN	T	346	ENSP00000281523:A346T	ENSP00000281523:A346T	A	-	1	0	ZNF385D	21437862	0.998000	0.40836	0.210000	0.23637	0.083000	0.17756	3.858000	0.55979	2.887000	0.99086	0.650000	0.86243	GCA	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252884.1		-	ENST00000281523.2	Missense_Mutation	SNP	3 : 21462858 - 21462858 T PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	127	25
ZNF804A	91752	broad.mit.edu	37	2	185801329	185801329	+	Silent	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:185801329A>G	ENST00000302277.6	+	4	1800	c.1206A>G	c.(1204-1206)tcA>tcG	p.S402S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	402						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGCCCCTTCAAATACTGAAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	78	76			NA	NA	2		NA											NA				185801329		2202	4299	6501	SO:0001819	synonymous_variant			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396	91752	91752			21711	protein-coding gene	gene with protein product		612282		C2orf10	NA	12970790	Standard	NM_194250	NM_194250	NA	Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1206A>G	2.37:g.185801329A>G		NA	A7E253|Q6ZN26	37	CCDS2291.1																																																																																			ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255871.1		+	ENST00000302277.6	Silent	SNP	2 : 185801329 - 185801329 G PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	485	63
ZNF831	128611	broad.mit.edu	37	20	57769548	57769548	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1158						intracellular	nucleic acid binding|zinc ion binding	p.T1158T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											44	51	48			NA	NA	20		NA											NA				57769548		2038	4178	6216	SO:0001819	synonymous_variant			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3474G>A	20.37:g.57769548G>A		NA	Q5TDR4|Q8TCP0	37	CCDS42894.1																																																																																			ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Silent	SNP	20 : 57769548 - 57769548 A PAAD-TCGA-IB-7890-Tumor-SM-2RBKC	712	110
