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
ACOT12	134526	broad.mit.edu	37	5	80640798	80640798	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80640798C>T	ENST00000307624.3	-	8	864	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	279	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTTGATGTGACGCCCTCGGCC	0.493		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	0.0013	SNP								NA				0													115	109	111			NA	NA	5		NA											NA				80640798		2203	4300	6503	SO:0001583	missense			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497	134526	134526		Acyl CoA thioesterases, StAR-related lipid transfer (START) domain containing	24436	protein-coding gene	gene with protein product	StAR-related lipid transfer (START) domain containing 15	614315			NA	16103133, 16940157	Standard	NM_130767	NM_130767	NA	Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.836G>A	5.37:g.80640798C>T	ENSP00000303246:p.Arg279His	NA	B3KVK9	37	CCDS4055.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.7	4.451499	0.84209	.	.	ENSG00000172497	ENST00000307624	T	0.32753	1.44	5.53	4.64	0.57946	.	0.131978	0.52532	D	0.000073	T	0.57932	0.2087	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.65067	-0.6258	10	0.87932	D	0	-19.3255	15.1428	0.72623	0.0:0.8576:0.1424:0.0	.	279	Q8WYK0	ACO12_HUMAN	H	279	ENSP00000303246:R279H	ENSP00000303246:R279H	R	-	2	0	ACOT12	80676554	1.000000	0.71417	0.454000	0.27019	0.882000	0.50991	6.380000	0.73158	1.301000	0.44836	0.561000	0.74099	CGT	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254074.1		-	ENST00000307624.3	Missense_Mutation	SNP	5 : 80640798 - 80640798 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	348	65
ADAM2	2515	broad.mit.edu	37	8	39626980	39626980	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:39626980G>C	ENST00000379853.2	-	8	789	c.765C>G	c.(763-765)ttC>ttG	p.F255L	ADAM2_ENST00000265708.4_Missense_Mutation_p.F381L|ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L			Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	141	146			NA	NA	8		NA											NA				39626980		2203	4300	6503	SO:0001583	missense			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755	2515	2515		ADAM metallopeptidase domain containing	198	protein-coding gene	gene with protein product	cancer/testis antigen 15	601533	fertilin beta	FTNB	NA	8702389, 9070941	Standard	NM_001464	NM_001278113	NA	Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000379853.2:c.765C>G	8.37:g.39626980G>C	ENSP00000369182:p.Phe255Leu	NA	P78326|Q9UQQ8	37		.	.	.	.	.	.	.	.	.	.	G	11.72	1.721482	0.30503	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.01947	5.13;4.54;5.38;5.34	5.11	2.07	0.26955	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.01800	0.0057	N	0.17631	0.505	0.09310	N	1	B;B;B;B	0.14438	0.01;0.009;0.008;0.005	B;B;B;B	0.23018	0.019;0.011;0.043;0.019	T	0.49214	-0.8963	8	.	.	.	.	7.2813	0.26312	0.3303:0.0:0.6697:0.0	.	381;255;362;381	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	L	362;255;381;381	ENSP00000343854:F362L;ENSP00000369182:F255L;ENSP00000265708:F381L;ENSP00000429352:F381L	.	F	-	3	2	ADAM2	39746137	0.994000	0.37717	0.066000	0.19879	0.006000	0.05464	1.063000	0.30567	0.551000	0.29008	0.650000	0.86243	TTC	ADAM2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376925.1		-	ENST00000379853.2	Missense_Mutation	SNP	8 : 39626980 - 39626980 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	298	9
ADAMTS5	11096	broad.mit.edu	37	21	28315795	28315795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:28315795G>A	ENST00000284987.5	-	3	1430	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	437	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACATTAAGCGCTTATCTTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(53;683 1080 10100 14424 45938)							NA				0													114	100	105			NA	NA	21		NA											NA				28315795		2203	4300	6503	SO:0001583	missense			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736	11096	11096		ADAM metallopeptidases with thrombospondin type 1 motif	221	protein-coding gene	gene with protein product	aggrecanase-2	605007	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)		NA	10438522	Standard		NM_007038	NA	Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1309C>T	21.37:g.28315795G>A	ENSP00000284987:p.Arg437Cys	NA	Q52LV4|Q9UKP2	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445910	0.84101	.	.	ENSG00000154736	ENST00000284987	T	0.21543	2.0	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	N	0.00405	-1.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.60556	-0.7240	10	0.87932	D	0	.	15.0918	0.72201	0.0:0.0:0.858:0.142	.	437	Q9UNA0	ATS5_HUMAN	C	437	ENSP00000284987:R437C	ENSP00000284987:R437C	R	-	1	0	ADAMTS5	27237666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.848000	0.62874	2.828000	0.97474	0.650000	0.86243	CGC	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171648.1		-	ENST00000284987.5	Missense_Mutation	SNP	21 : 28315795 - 28315795 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	235	9
AGL	178	broad.mit.edu	37	1	100382219	100382219	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:100382219G>A	ENST00000294724.4	+	33	4891	c.4413G>A	c.(4411-4413)ccG>ccA	p.P1471P	AGL_ENST00000361302.3_Silent_p.P1455P|AGL_ENST00000370163.3_Silent_p.P1471P|AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000361522.4_Silent_p.P1454P|AGL_ENST00000370161.2_Silent_p.P1455P|AGL_ENST00000361915.3_Silent_p.P1471P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1471					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGATGGGCCCGGAGACTACTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	88	86			NA	NA	1		NA											NA				100382219		2203	4300	6503	SO:0001819	synonymous_variant			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	178	178	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	glycogen debranching enzyme, glycogen storage disease type III	610860	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase		NA	1505983	Standard	NM_000028	NM_000028	NA	Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4413G>A	1.37:g.100382219G>A		NA	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	37	CCDS759.1																																																																																			AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029778.1		+	ENST00000294724.4	Silent	SNP	1 : 100382219 - 100382219 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	337	18
AKAP12	9590	broad.mit.edu	37	6	151669981	151669981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:151669981C>T	ENST00000253332.1	+	3	644	c.455C>T	c.(454-456)tCa>tTa	p.S152L	AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000402676.2_Missense_Mutation_p.S152L|AKAP12_ENST00000354675.6_Missense_Mutation_p.S54L|AKAP12_ENST00000359755.5_Missense_Mutation_p.S47L			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	152					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATTCCTTCTTCAGAAAGCAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(141;1616 1805 10049 24534 51979)							NA				0													124	113	116			NA	NA	6		NA											NA				151669981		2203	4300	6503	SO:0001583	missense			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016	9590	9590		A-kinase anchor proteins	370	protein-coding gene	gene with protein product	gravin, Src-Suppressed C Kinase Substrate	604698	A kinase (PRKA) anchor protein (gravin) 12		NA	9000000	Standard		NM_144497	NA	Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.455C>T	6.37:g.151669981C>T	ENSP00000253332:p.Ser152Leu	NA	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221418	0.79464	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10005	2.92;2.92;2.95;2.94	5.55	5.55	0.83447	.	0.000000	0.33199	N	0.005168	T	0.04497	0.0123	L	0.46157	1.445	0.09310	N	1	P;P;P	0.42518	0.782;0.782;0.675	B;B;B	0.37650	0.255;0.255;0.13	T	0.26052	-1.0114	10	0.37606	T	0.19	.	10.9795	0.47486	0.0:0.8859:0.0:0.1141	.	47;54;152	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	L	152;152;54;47	ENSP00000384537:S152L;ENSP00000253332:S152L;ENSP00000346702:S54L;ENSP00000352794:S47L	ENSP00000253332:S152L	S	+	2	0	AKAP12	151711674	0.007000	0.16637	0.810000	0.32431	0.881000	0.50899	1.860000	0.39428	2.770000	0.95276	0.563000	0.77884	TCA	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042712.1		+	ENST00000253332.1	Missense_Mutation	SNP	6 : 151669981 - 151669981 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	658	7
ANKRD13C	81573	broad.mit.edu	37	1	70819981	70819981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:70819981delG	ENST00000370944.4	-	1	424	c.111delC	c.(109-111)accfs	p.T37fs	ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.T37fs	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	37					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTCTGGTAAAGGTACCGCCGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	63	61			NA	NA	1		NA											NA				70819981		2203	4300	6503	SO:0001589	frameshift_variant				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454	81573	81573		Ankyrin repeat domain containing	25374	protein-coding gene	gene with protein product		615125			NA	11230166	Standard	NM_030816	NM_030816	NA	Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.111delC	1.37:g.70819981delG	ENSP00000359982:p.Thr37fs	NA	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	37	CCDS648.2																																																																																			ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025903.1		-	ENST00000370944.4	Frame_Shift_Del	DEL	1 : 70819981 - 70819981 - PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	510	79
ANKRD30A	91074	broad.mit.edu	37	10	37486218	37486218	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:37486218A>G	ENST00000374660.1	+	34	2912	c.2813A>G	c.(2812-2814)gAg>gGg	p.E938G	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E819G|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E819G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGCCTCCCGAGAAGCCATCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	164	175			NA	NA	10		NA											NA				37486218		1812	4086	5898	SO:0001583	missense			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.2813A>G	10.37:g.37486218A>G	ENSP00000363792:p.Glu938Gly	NA	Q5W025	37		.	.	.	.	.	.	.	.	.	.	.	7.473	0.647097	0.14516	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07567	3.18;3.18	1.36	1.36	0.22044	.	.	.	.	.	T	0.09024	0.0223	N	0.17082	0.46	0.09310	N	1	P	0.45126	0.851	P	0.55391	0.775	T	0.33240	-0.9876	9	0.30078	T	0.28	.	4.8082	0.13329	1.0:0.0:0.0:0.0	.	875	Q9BXX3	AN30A_HUMAN	G	819;938	ENSP00000354432:E819G;ENSP00000363792:E938G	ENSP00000354432:E819G	E	+	2	0	ANKRD30A	37526224	0.084000	0.21492	0.002000	0.10522	0.001000	0.01503	2.453000	0.44970	0.609000	0.30018	0.398000	0.26397	GAG	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Missense_Mutation	SNP	10 : 37486218 - 37486218 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	1536	8
ARHGAP20	57569	broad.mit.edu	37	11	110477352	110477352	+	Silent	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:110477352G>C	ENST00000260283.4	-	10	1181	c.897C>G	c.(895-897)ctC>ctG	p.L299L	ARHGAP20_ENST00000528829.1_Silent_p.L263L|ARHGAP20_ENST00000524756.1_Silent_p.L276L|ARHGAP20_ENST00000357139.3_Silent_p.L273L|ARHGAP20_ENST00000533353.1_Silent_p.L273L|ARHGAP20_ENST00000527598.1_Silent_p.L263L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	299					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCGGGGGAGCTGTTCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	162	160			NA	NA	11		NA											NA				110477352		2201	4298	6499	SO:0001819	synonymous_variant			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727	57569	57569		Rho GTPase activating proteins	18357	protein-coding gene	gene with protein product		609568			NA	14532992	Standard	NM_020809	NM_020809	NA	Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.897C>G	11.37:g.110477352G>C		NA	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	37	CCDS31673.1																																																																																			ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390628.1		-	ENST00000260283.4	Silent	SNP	11 : 110477352 - 110477352 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	913	10
BMP1	649	broad.mit.edu	37	8	22037971	22037971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:22037971G>A	ENST00000306385.5	+	8	1722	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.R351H|BMP1_ENST00000397814.3_Missense_Mutation_p.R351H|BMP1_ENST00000306349.8_Missense_Mutation_p.R351H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	351	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCGTGTGGCGCATCTCTGTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	165	174			NA	NA	8		NA											NA				22037971		2203	4300	6503	SO:0001583	missense				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1052G>A	8.37:g.22037971G>A	ENSP00000305714:p.Arg351His	NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795501	0.90453	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.66	5.66	0.87406	CUB (5);	0.000000	0.39274	U	0.001412	T	0.53722	0.1814	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;0.998;0.994	P;D;P;P	0.91635	0.818;0.999;0.886;0.629	T	0.42241	-0.9463	10	0.35671	T	0.21	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	351;424;351;351	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	H	351	ENSP00000305714:R351H;ENSP00000380917:R351H;ENSP00000306121:R351H;ENSP00000380915:R351H	ENSP00000306121:R351H	R	+	2	0	BMP1	22093916	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.755000	0.74914	2.665000	0.90641	0.561000	0.74099	CGC	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Missense_Mutation	SNP	8 : 22037971 - 22037971 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	404	5
BMP2	650	broad.mit.edu	37	20	6759506	6759506	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:6759506C>G	ENST00000378827.4	+	3	2180	c.961C>G	c.(961-963)Cac>Gac	p.H321D		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	321					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CCCGGGGTATCACGCCTTTTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	134	143			NA	NA	20		NA											NA				6759506		2203	4300	6503	SO:0001583	missense				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845	650	650		Bone morphogenetic proteins, Endogenous ligands	1069	protein-coding gene	gene with protein product		112261		BMP2A	NA	2376592	Standard		NM_001200	NA	Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.961C>G	20.37:g.6759506C>G	ENSP00000368104:p.His321Asp	NA		37	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	8.617	0.890572	0.17613	.	.	ENSG00000125845	ENST00000378827	D	0.83673	-1.75	5.57	5.57	0.84162	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.132179	0.64402	D	0.000002	T	0.69378	0.3104	N	0.10664	0.02	0.53005	D	0.999968	B	0.14012	0.009	B	0.15052	0.012	T	0.65944	-0.6045	10	0.52906	T	0.07	.	14.6309	0.68655	0.1798:0.8202:0.0:0.0	.	321	P12643	BMP2_HUMAN	D	321	ENSP00000368104:H321D	ENSP00000368104:H321D	H	+	1	0	BMP2	6707506	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.436000	0.44819	2.775000	0.95449	0.650000	0.86243	CAC	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077918.3		+	ENST00000378827.4	Missense_Mutation	SNP	20 : 6759506 - 6759506 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	302	25
BRINP2	57795	broad.mit.edu	37	1	177250548	177250548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:177250548C>T	ENST00000361539.4	+	8	2548	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	746								p.R746W(1)			NA						CTGCTTGCTCCGGCATCGGCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											81	75	77			NA	NA	1		NA											NA				177250548		2203	4300	6503	SO:0001583	missense				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797	57795	57795			13746	protein-coding gene	gene with protein product			family with sequence similarity 5, member B	FAM5B	NA	15193423	Standard	NM_021165	NM_021165	NA	Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2236C>T	1.37:g.177250548C>T	ENSP00000354481:p.Arg746Trp	NA		37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184485	0.78677	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19105	2.17	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.48917	-0.8992	10	0.87932	D	0	-25.3023	17.9969	0.89187	0.0:1.0:0.0:0.0	.	641;746	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	W	499;746	ENSP00000354481:R746W	ENSP00000354481:R746W	R	+	1	2	FAM5B	175517171	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.767000	0.62286	2.346000	0.79739	0.313000	0.20887	CGG	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084599.1		+	ENST00000361539.4	Missense_Mutation	SNP	1 : 177250548 - 177250548 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	389	93
CCDC125	202243	broad.mit.edu	37	5	68606995	68606995	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:68606995G>C	ENST00000383374.2	-	4	484	c.400C>G	c.(400-402)Caa>Gaa	p.Q134E	CCDC125_ENST00000396496.2_Missense_Mutation_p.Q135E|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.Q10E|CCDC125_ENST00000396499.1_Missense_Mutation_p.Q135E			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	135						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AGTTGTCTTTGAGATGCCTCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	124	128			NA	NA	5		NA											NA				68606995		2203	4298	6501	SO:0001583	missense			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323	202243	202243			28924	protein-coding gene	gene with protein product		613781			NA		Standard	NM_176816	XM_005248461	NA	Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000383374.2:c.400C>G	5.37:g.68606995G>C	ENSP00000372865:p.Gln134Glu	NA	Q86Z19	37		.	.	.	.	.	.	.	.	.	.	G	16.19	3.053710	0.55218	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.48	5.48	0.80851	.	0.059297	0.64402	D	0.000002	T	0.59432	0.2193	L	0.32530	0.975	0.35876	D	0.828574	D;B	0.71674	0.998;0.116	D;B	0.80764	0.994;0.103	T	0.67734	-0.5594	10	0.66056	D	0.02	-26.8695	16.8811	0.86063	0.0:0.0:1.0:0.0	.	10;135	Q86Z20-2;Q86Z20	.;CC125_HUMAN	E	135;135;134;10	ENSP00000379754:Q135E;ENSP00000379756:Q135E;ENSP00000372865:Q134E;ENSP00000426795:Q10E	ENSP00000372865:Q134E	Q	-	1	0	CCDC125	68642751	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.969000	0.70422	2.588000	0.87417	0.485000	0.47835	CAA	CCDC125-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000308940.1		-	ENST00000383374.2	Missense_Mutation	SNP	5 : 68606995 - 68606995 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	255	5
CCDC87	55231	broad.mit.edu	37	11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCCTCAGGCGGGCTTTGGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4400		0,0,2200	57	62	60		2128	4.1	0.3	11		60	4,8584		0,4,4290	yes	missense	CCDC87	NM_018219.2	180	0,4,6490	AA,AG,GG	NA	0.0466,0.0,0.0308	probably-damaging	710/850	66358359	4,12984	2200	4294	6494	SO:0001583	missense			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791	55231	55231			25579	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018219	NM_018219	NA	Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2128C>T	11.37:g.66358359G>A	ENSP00000328487:p.Arg710Cys	NA	Q8NE76	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929265	0.34096	0.0	4.66E-4	ENSG00000182791	ENST00000333861	T	0.34072	1.38	5.07	4.14	0.48551	.	0.000000	0.43919	D	0.000515	T	0.55673	0.1935	M	0.70595	2.14	0.38943	D	0.958188	D	0.89917	1.0	D	0.70935	0.971	T	0.61113	-0.7128	10	0.56958	D	0.05	-9.6332	11.2898	0.49244	0.0:0.1836:0.8164:0.0	.	710	Q9NVE4	CCD87_HUMAN	C	710	ENSP00000328487:R710C	ENSP00000328487:R710C	R	-	1	0	CCDC87	66114935	0.866000	0.29940	0.252000	0.24328	0.123000	0.20343	1.200000	0.32247	1.327000	0.45338	0.561000	0.74099	CGC	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393825.1		-	ENST00000333861.3	Missense_Mutation	SNP	11 : 66358359 - 66358359 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	609	33
CIAO1	9391	broad.mit.edu	37	2	96933201	96933201	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:96933201C>G	ENST00000488633.1	+	2	501	c.282C>G	c.(280-282)gaC>gaG	p.D94E	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur assembly component 1	94					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						ACCAGGATGACTTTGAGGTAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	2		NA											NA				96933201		2203	4300	6503	SO:0001583	missense			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.282C>G	2.37:g.96933201C>G	ENSP00000418287:p.Asp94Glu	NA	A0MNN9|Q53FM5	37	CCDS2019.1	.	.	.	.	.	.	.	.	.	.	C	2.554	-0.303318	0.05495	.	.	ENSG00000144021	ENST00000488633	T	0.64618	-0.11	4.42	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.160021	0.53938	D	0.000052	T	0.33731	0.0873	N	0.16656	0.425	0.50313	D	0.999867	B	0.10296	0.003	B	0.06405	0.002	T	0.23154	-1.0196	10	0.02654	T	1	-31.1946	5.1613	0.15062	0.0:0.5091:0.2974:0.1935	.	94	O76071	CIAO1_HUMAN	E	94	ENSP00000418287:D94E	ENSP00000418287:D94E	D	+	3	2	CIAO1	96296928	0.987000	0.35691	1.000000	0.80357	0.992000	0.81027	0.182000	0.16900	0.511000	0.28236	0.655000	0.94253	GAC	CIAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252843.1		+	ENST00000488633.1	Missense_Mutation	SNP	2 : 96933201 - 96933201 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	494	126
CLTC	1213	broad.mit.edu	37	17	57725004	57725004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:57725004C>A	ENST00000269122.3	+	3	770	c.496C>A	c.(496-498)Ctt>Att	p.L166I	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L166I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	166	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAGTGGTTACTTCTGACTGG	0.393		NA	T	ALK, TFE3	ALCL, renal 									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q11-qter	1213	clathrin, heavy polypeptide (Hc)		L	0													112	107	109			NA	NA	17		NA											NA				57725004		2203	4300	6503	SO:0001583	missense			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367	1213	1213			2092	protein-coding gene	gene with protein product		118955	clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2	CLTCL2	NA	1765375, 7584026	Standard	NM_004859	NM_004859	NA	Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.496C>A	17.37:g.57725004C>A	ENSP00000269122:p.Leu166Ile	NA	D3DU00|Q6N0A0|Q86TF2	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210186	0.58343	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.42513	0.97;0.97	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.50333	1.59	0.80722	D	1	D;B	0.56968	0.978;0.001	D;B	0.77557	0.99;0.015	T	0.53885	-0.8375	10	0.42905	T	0.14	.	15.153	0.72717	0.0:0.931:0.0:0.069	.	166;166	Q00610;Q00610-2	CLH1_HUMAN;.	I	166	ENSP00000269122:L166I;ENSP00000376763:L166I	ENSP00000269122:L166I	L	+	1	0	CLTC	55079786	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.985000	0.63845	2.739000	0.93911	0.655000	0.94253	CTT	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258859.1		+	ENST00000269122.3	Missense_Mutation	SNP	17 : 57725004 - 57725004 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	564	118
CNTNAP5	129684	broad.mit.edu	37	2	125671709	125671709	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:125671709C>T	ENST00000431078.1	+	24	4129	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1255					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1255I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGTATCATCGGCATCATGA	0.468		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)						C		1,3945		0,1,1972	174	164	167		3765	-8.1	0	2		167	0,8350		0,0,4175	no	coding-synonymous	CNTNAP5	NM_130773.2		0,1,6147	TT,TC,CC	NA	0.0,0.0253,0.0081		1255/1307	125671709	1,12295	1973	4175	6148	SO:0001819	synonymous_variant			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3765C>T	2.37:g.125671709C>T		NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1																																																																																			CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3		+	ENST00000431078.1	Silent	SNP	2 : 125671709 - 125671709 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	597	34
CPNE5	57699	broad.mit.edu	37	6	36710085	36710085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:36710085G>A	ENST00000244751.2	-	21	2366	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A289V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	581										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCGTGCGGGCTGGGGACTG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	6		NA											NA				36710085		2201	4299	6500	SO:0001583	missense			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772	57699	57699			2318	protein-coding gene	gene with protein product		604209			NA	9430674	Standard	NM_020939	NM_020939	NA	Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1742C>T	6.37:g.36710085G>A	ENSP00000244751:p.Ala581Val	NA		37	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444369	0.43429	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.12039	3.51;2.72	4.6	2.8	0.32819	.	0.243896	0.41823	D	0.000812	T	0.02970	0.0088	L	0.36672	1.1	0.27941	N	0.937519	B	0.06786	0.001	B	0.04013	0.001	T	0.42481	-0.9449	10	0.29301	T	0.29	.	6.038	0.19718	0.1033:0.1925:0.7042:0.0	.	581	Q9HCH3	CPNE5_HUMAN	V	581;289	ENSP00000244751:A581V;ENSP00000376885:A289V	ENSP00000244751:A581V	A	-	2	0	CPNE5	36818063	0.057000	0.20700	0.864000	0.33941	0.739000	0.42172	0.598000	0.24074	0.551000	0.29008	0.561000	0.74099	GCC	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040351.1		-	ENST00000244751.2	Missense_Mutation	SNP	6 : 36710085 - 36710085 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	376	54
CSMD3	114788	broad.mit.edu	37	8	113349048	113349048	+	Silent	SNP	A	A	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:113349048A>T	ENST00000297405.5	-	44	7096	c.6852T>A	c.(6850-6852)ggT>ggA	p.G2284G	CSMD3_ENST00000455883.2_Silent_p.G2180G|CSMD3_ENST00000352409.3_Silent_p.G2214G|CSMD3_ENST00000343508.3_Silent_p.G2244G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2284	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATATTCCCACCACAAAGAG	0.348		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	61	63			NA	NA	8		NA											NA				113349048		2203	4300	6503	SO:0001819	synonymous_variant			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6852T>A	8.37:g.113349048A>T		NA	Q96PZ3	37	CCDS6315.1																																																																																			CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Silent	SNP	8 : 113349048 - 113349048 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	528	182
CSPG4	1464	broad.mit.edu	37	15	75977834	75977834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:75977834G>A	ENST00000308508.5	-	4	4090	c.3998C>T	c.(3997-3999)tCg>tTg	p.S1333L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1333	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACATCCAGCGAGAAGGCATC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	17			NA	NA	15		NA											NA				75977834		2188	4287	6475	SO:0001583	missense			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3998C>T	15.37:g.75977834G>A	ENSP00000312506:p.Ser1333Leu	NA	D3DW77|Q92675	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.250306	0.22880	.	.	ENSG00000173546	ENST00000308508	T	0.19669	2.13	4.76	3.78	0.43462	.	0.428701	0.21773	N	0.069329	T	0.11110	0.0271	L	0.27053	0.805	0.30136	N	0.804328	B	0.31837	0.342	B	0.17098	0.017	T	0.08006	-1.0743	10	0.20519	T	0.43	.	8.5151	0.33242	0.0964:0.1601:0.7435:0.0	.	1333	Q6UVK1	CSPG4_HUMAN	L	1333	ENSP00000312506:S1333L	ENSP00000312506:S1333L	S	-	2	0	CSPG4	73764889	1.000000	0.71417	0.993000	0.49108	0.240000	0.25518	3.390000	0.52523	2.356000	0.79943	0.505000	0.49811	TCG	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Missense_Mutation	SNP	15 : 75977834 - 75977834 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	62	26
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000409469.1_Missense_Mutation_p.E485K|CUL1_ENST00000602748.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	urinary_tract(2)|lung(1)|central_nervous_system(1)											80	73	76			NA	NA	7		NA											NA				148484186		2203	4300	6503	SO:0001583	missense			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130	8454	8454			2551	protein-coding gene	gene with protein product		603134			NA	8681378	Standard	NM_003592	NM_003592	NA	Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys	NA	D3DWG3|O60719|Q08AL6|Q8IYW1	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467785.1		+	ENST00000325222.4	Missense_Mutation	SNP	7 : 148484186 - 148484186 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	354	21
CYP4F22	126410	broad.mit.edu	37	19	15655075	15655075	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:15655075T>C	ENST00000269703.3	+	10	1320	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	CYP4F22_ENST00000601005.2_Missense_Mutation_p.L374P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	NA						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCCGGGAGCTGGAGGAGCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	19		NA											NA				15655075		2203	4300	6503	SO:0001583	missense				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954	126410	126410		Cytochrome P450s	26820	protein-coding gene	gene with protein product		611495			NA	16436457	Standard	NM_173483	NM_173483	NA	Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1121T>C	19.37:g.15655075T>C	ENSP00000269703:p.Leu374Pro	NA	Q8N8H4	37	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	T	0.522	-0.861607	0.02610	.	.	ENSG00000171954	ENST00000269703	T	0.67523	-0.27	5.21	1.34	0.21922	.	0.814660	0.10833	N	0.629139	T	0.31009	0.0783	N	0.01493	-0.835	0.39648	D	0.970427	B	0.02656	0.0	B	0.06405	0.002	T	0.17715	-1.0360	10	0.13108	T	0.6	.	3.4617	0.07535	0.1692:0.2777:0.0:0.5531	.	374	Q6NT55	CP4FN_HUMAN	P	374	ENSP00000269703:L374P	ENSP00000269703:L374P	L	+	2	0	CYP4F22	15516075	0.170000	0.23016	0.998000	0.56505	0.993000	0.82548	0.276000	0.18716	0.272000	0.22027	0.496000	0.49642	CTG	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461338.2		+	ENST00000269703.3	Missense_Mutation	SNP	19 : 15655075 - 15655075 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	170	7
DBH	1621	broad.mit.edu	37	9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	pancreas(1)											77	76	76			NA	NA	9		NA											NA				136508616		2203	4300	6503	SO:0001583	missense			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1621	1621	1.14.17.1		2689	protein-coding gene	gene with protein product		609312			NA		Standard	NM_000787	NM_000787	NA	Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.826G>A	9.37:g.136508616G>A	ENSP00000376776:p.Val276Ile	NA	Q5T381|Q96AG2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.699360	0.00725	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.29917	1.55;1.55	4.9	-8.25	0.01025	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.610624	0.17687	N	0.165404	T	0.07954	0.0199	N	0.04373	-0.215	0.19775	N	0.99995	B	0.06786	0.001	B	0.11329	0.006	T	0.25502	-1.0130	10	0.02654	T	1	-15.1191	7.9737	0.30143	0.4294:0.0:0.3685:0.2021	.	276	P09172	DOPO_HUMAN	I	276;213;213	ENSP00000376776:V276I;ENSP00000263611:V213I	ENSP00000263611:V213I	V	+	1	0	DBH	135498437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.053000	0.03500	-1.933000	0.01052	-0.410000	0.06199	GTC	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054929.2		+	ENST00000393056.2	Missense_Mutation	SNP	9 : 136508616 - 136508616 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	348	9
DCC	1630	broad.mit.edu	37	18	50912488	50912488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:50912488C>T	ENST00000581580.1	+	13	1665	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	DCC_ENST00000442544.2_Missense_Mutation_p.A812V|DCC_ENST00000412726.1_Missense_Mutation_p.A660V			P43146	DCC_HUMAN	DCC netrin 1 receptor	812	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATGAAAGTGCCACCACCAGG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	87	88			NA	NA	18		NA											NA				50912488		2203	4299	6502	SO:0001583	missense			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323	1630	1630		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2701	protein-coding gene	gene with protein product	immunoglobulin superfamily, DCC subclass, member 1	120470	deleted in colorectal carcinoma		NA	2294591, 24400119	Standard	NM_005215	NM_005215	NA	Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000581580.1:c.1400C>T	18.37:g.50912488C>T	ENSP00000464582:p.Ala467Val	NA		37		.	.	.	.	.	.	.	.	.	.	C	17.94	3.510566	0.64522	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.54866	2.03;0.55	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	N	0.04018	-0.295	0.58432	D	0.999999	B;B;P	0.51537	0.221;0.221;0.946	B;B;P	0.46796	0.085;0.085;0.527	T	0.39333	-0.9619	10	0.33141	T	0.24	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	660;660;812	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	V	812;745;660	ENSP00000389140:A812V;ENSP00000397322:A660V	ENSP00000304146:A745V	A	+	2	0	DCC	49166486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.481000	0.81124	2.941000	0.99782	0.655000	0.94253	GCC	DCC-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447776.2		+	ENST00000581580.1	Missense_Mutation	SNP	18 : 50912488 - 50912488 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	470	5
DENND6A	201627	broad.mit.edu	37	3	57616512	57616512	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:57616512T>A	ENST00000311128.5	-	17	1517	c.1447A>T	c.(1447-1449)Atg>Ttg	p.M483L	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A	NA											NA						AGTGTTTTCATAAATTCTTCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	3		NA											NA				57616512		2203	4300	6503	SO:0001583	missense			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839	201627	201627		DENN/MADD domain containing	26635	protein-coding gene	gene with protein product			family with sequence similarity 116, member A	FAM116A	NA	21330364	Standard	NM_152678	NM_152678	NA	Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1447A>T	3.37:g.57616512T>A	ENSP00000311401:p.Met483Leu	NA		37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.816|9.816	1.184419|1.184419	0.21870|0.21870	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000471531	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30262|0.30262	0.0759|0.0759	N|N	0.01624|0.01624	-0.795|-0.795	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.10450|.	0.005|.	T|T	0.36939|0.36939	-0.9727|-0.9727	9|5	0.02654|.	T|.	1|.	-2.1172|-2.1172	16.3939|16.3939	0.83550|0.83550	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	483|.	Q8IWF6|.	F116A_HUMAN|.	L|F	483|54	.|.	ENSP00000311401:M483L|.	M|Y	-|-	1|2	0|0	FAM116A|FAM116A	57591552|57591552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.698000|7.698000	0.84413|0.84413	2.276000|2.276000	0.75962|0.75962	0.455000|0.455000	0.32223|0.32223	ATG|TAT	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351594.1		-	ENST00000311128.5	Missense_Mutation	SNP	3 : 57616512 - 57616512 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	492	8
DMXL1	1657	broad.mit.edu	37	5	118506551	118506551	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:118506551A>C	ENST00000311085.8	+	24	6145	c.6065A>C	c.(6064-6066)gAt>gCt	p.D2022A	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2022A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2022										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCATCAGAAGATATAATTGCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	49	48			NA	NA	5		NA											NA				118506551		2202	4298	6500	SO:0001583	missense			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869	1657	1657		WD repeat domain containing	2937	protein-coding gene	gene with protein product		605671			NA	10708522	Standard	NM_005509	NM_005509	NA	Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6065A>C	5.37:g.118506551A>C	ENSP00000309690:p.Asp2022Ala	NA		37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749710	0.69533	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.77750	-1.12;-1.12	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91353	0.5106	10	0.87932	D	0	-19.8717	15.606	0.76672	1.0:0.0:0.0:0.0	.	2022;2022	F5H269;Q9Y485	.;DMXL1_HUMAN	A	2022	ENSP00000309690:D2022A;ENSP00000439479:D2022A	ENSP00000309690:D2022A	D	+	2	0	DMXL1	118534450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.083000	0.62718	0.455000	0.32223	GAT	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250862.1		+	ENST00000311085.8	Missense_Mutation	SNP	5 : 118506551 - 118506551 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	361	67
DPY19L3	147991	broad.mit.edu	37	19	32971419	32971419	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:32971419C>T	ENST00000342179.5	+	18	2160	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	DPY19L3_ENST00000586987.1_Missense_Mutation_p.R649W|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R649W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	649						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GAGGCACCGCCGGGGCTGCCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	41	40			NA	NA	19		NA											NA				32971419		2203	4300	6503	SO:0001583	missense				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904	147991	147991			27120	protein-coding gene	gene with protein product		613894			NA		Standard	NM_207325	NM_207325	NA	Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1945C>T	19.37:g.32971419C>T	ENSP00000344937:p.Arg649Trp	NA	Q68DC7|Q6ZTB7|Q6ZTS2	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596002	0.86953	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.56776	0.44;0.44	5.43	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.77103	2.36	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	T	0.74172	-0.3751	10	0.72032	D	0.01	-13.2638	11.7833	0.52028	0.6264:0.3736:0.0:0.0	.	649	Q6ZPD9	D19L3_HUMAN	W	649	ENSP00000376081:R649W;ENSP00000344937:R649W	ENSP00000344937:R649W	R	+	1	2	DPY19L3	37663259	0.949000	0.32298	0.934000	0.37439	0.968000	0.65278	1.706000	0.37878	1.214000	0.43395	0.563000	0.77884	CGG	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450311.1		+	ENST00000342179.5	Missense_Mutation	SNP	19 : 32971419 - 32971419 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	280	15
DST	667	broad.mit.edu	37	6	56325048	56325048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:56325048G>A	ENST00000361203.3	-	97	22011	c.22004C>T	c.(22003-22005)aCg>aTg	p.T7335M	DST_ENST00000446842.2_Missense_Mutation_p.T7120M|DST_ENST00000370788.2_Missense_Mutation_p.T5249M|DST_ENST00000421834.2_Missense_Mutation_p.T5331M|DST_ENST00000370754.5_Missense_Mutation_p.T7624M|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.T7446M|DST_ENST00000244364.6_Missense_Mutation_p.T5045M			Q03001	DYST_HUMAN	dystonin	7444	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGTATTGGCGTTCCCTGTAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	95	95			NA	NA	6		NA											NA				56325048		1915	4128	6043	SO:0001583	missense			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22004C>T	6.37:g.56325048G>A	ENSP00000354508:p.Thr7335Met	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.352831|4.352831	0.82132|0.82132	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.65732	.|0.71;-0.16;-0.17;-0.07;0.78;-0.04;-0.11	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.73590|0.73590	0.3606|0.3606	L|L	0.55481|0.55481	1.735|1.735	.|.	.|.	.|.	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.972;0.999;0.999;0.993	.|D;D;D;D;P;P;P;P	.|0.87578	.|0.998;0.996;0.994;0.998;0.503;0.802;0.891;0.73	T|T	0.70085|0.70085	-0.4969|-0.4969	4|9	.|0.49607	.|T	.|0.09	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5331;7446;7624;7444;5045;132;132;5249	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	C|M	133|5045;7624;7446;5331;7120;5249;7335	.|ENSP00000244364:T5045M;ENSP00000359790:T7624M;ENSP00000359805:T7446M;ENSP00000400883:T5331M;ENSP00000393645:T7120M;ENSP00000359824:T5249M;ENSP00000354508:T7335M	.|ENSP00000244364:T5045M	R|T	-|-	1|2	0|0	DST|DST	56433007|56433007	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.996000|0.996000	0.88848|0.88848	7.542000|7.542000	0.82095|0.82095	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGC|ACG	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Missense_Mutation	SNP	6 : 56325048 - 56325048 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	382	93
EIF4G1	1981	broad.mit.edu	37	3	184043334	184043334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:184043334G>A	ENST00000392537.2	+	17	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	EIF4G1_ENST00000441154.1_Missense_Mutation_p.E847K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E846K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1010K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1010K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E1011K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E924K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1017K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E970K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E814K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1017K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E971K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E815K	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1010	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAAGGAGGCTGAGATGGAAGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	3		NA											NA				184043334		2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.2767G>A	3.37:g.184043334G>A	ENSP00000376320:p.Glu923Lys	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293252	0.23564	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04706	3.82;3.81;3.73;3.81;3.6;3.81;3.74;3.82;3.82;3.81;3.81;3.6;3.57;3.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	L	0.44542	1.39	0.80722	D	1	B;B;B	0.25312	0.123;0.063;0.059	B;B;B	0.25506	0.061;0.019;0.019	T	0.20571	-1.0271	10	0.05833	T	0.94	-17.1574	19.4726	0.94969	0.0:0.0:1.0:0.0	.	1017;1011;1010	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	K	1010;970;923;1017;846;1017;924;1011;1010;1017;971;847;815;814	ENSP00000316879:E1010K;ENSP00000391935:E970K;ENSP00000376320:E923K;ENSP00000371767:E1017K;ENSP00000317600:E846K;ENSP00000338020:E1017K;ENSP00000407682:E924K;ENSP00000343450:E1011K;ENSP00000323737:E1010K;ENSP00000416255:E1017K;ENSP00000395974:E971K;ENSP00000399858:E847K;ENSP00000411826:E815K;ENSP00000404754:E814K	ENSP00000323737:E1010K	E	+	1	0	EIF4G1	185526028	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	6.342000	0.72982	2.618000	0.88619	0.561000	0.74099	GAG	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184043334 - 184043334 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	624	8
ELMO1	9844	broad.mit.edu	37	7	37311484	37311484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:37311484G>A	ENST00000310758.4	-	5	843	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ELMO1_ENST00000448602.1_Missense_Mutation_p.R66C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R66C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	66					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R66C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCTCATTGCGGTTCTGGAAA	0.363		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)											114	118	117			NA	NA	7		NA											NA				37311484		2203	4300	6503	SO:0001583	missense			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849	9844	9844		Engulfment and cell motility proteins	16286	protein-coding gene	gene with protein product		606420	engulfment and cell motility 1 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_130442	NM_001039459	NA	Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.196C>T	7.37:g.37311484G>A	ENSP00000312185:p.Arg66Cys	NA	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871571	0.72065	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399	T;T;T;T;T;T	0.56275	2.24;2.24;2.24;1.01;0.97;0.47	4.79	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74393	-0.3680	10	0.54805	T	0.06	.	10.5944	0.45329	0.0:0.0:0.8084:0.1916	.	66	Q92556	ELMO1_HUMAN	C	66	ENSP00000312185:R66C;ENSP00000406952:R66C;ENSP00000394458:R66C;ENSP00000406610:R66C;ENSP00000416090:R66C;ENSP00000391734:R66C	ENSP00000312185:R66C	R	-	1	0	ELMO1	37278009	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.424000	0.52764	1.611000	0.50210	0.655000	0.94253	CGC	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219830.4		-	ENST00000310758.4	Missense_Mutation	SNP	7 : 37311484 - 37311484 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	419	19
ETV6	2120	broad.mit.edu	37	12	12037406	12037406	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:12037406A>G	ENST00000396373.4	+	6	1311	c.1037A>G	c.(1036-1038)tAt>tGt	p.Y346C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	346						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GATTACGTCTATCAGTTGCTT	0.438		NA	T	NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5	congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		L, E, M	0													184	163	170			NA	NA	12		NA											NA				12037406		2203	4300	6503	SO:0001583	missense			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083	2120	2120			3495	protein-coding gene	gene with protein product	TEL oncogene	600618	ets variant gene 6 (TEL oncogene)		NA	7731705	Standard	NM_001987	NM_001987	NA	Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1037A>G	12.37:g.12037406A>G	ENSP00000379658:p.Tyr346Cys	NA	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475803	0.84640	.	.	ENSG00000139083	ENST00000396373	T	0.14640	2.49	5.77	5.77	0.91146	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03068	-1.1076	10	0.62326	D	0.03	.	15.7572	0.78043	1.0:0.0:0.0:0.0	.	346	P41212	ETV6_HUMAN	C	346	ENSP00000379658:Y346C	ENSP00000379658:Y346C	Y	+	2	0	ETV6	11928673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.199000	0.70637	0.533000	0.62120	TAT	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400130.2		+	ENST00000396373.4	Missense_Mutation	SNP	12 : 12037406 - 12037406 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	1000	182
FAM133A	286499	broad.mit.edu	37	X	92964973	92964973	+	Silent	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:92964973T>C	ENST00000355813.5	+	4	1081	c.555T>C	c.(553-555)ccT>ccC	p.P185P	FAM133A_ENST00000538690.1_Silent_p.P185P|FAM133A_ENST00000322139.4_Silent_p.P185P|FAM133A_ENST00000332647.4_Silent_p.P185P	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	185	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGTTACCCTGATGATAAAC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	23	23			NA	NA	X		NA											NA				92964973		2202	4297	6499	SO:0001819	synonymous_variant			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083	286499	286499			26748	protein-coding gene	gene with protein product	cancer/testis antigen 115				NA		Standard	NM_173698	NM_173698	NA	Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.555T>C	X.37:g.92964973T>C		NA		37	CCDS14466.1																																																																																			FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057452.1		+	ENST00000355813.5	Silent	SNP	X : 92964973 - 92964973 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	63	7
FTMT	94033	broad.mit.edu	37	5	121188177	121188177	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121188177G>A	ENST00000321339.1	+	1	528	c.519G>A	c.(517-519)tcG>tcA	p.S173S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	173	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAACCAGTCGTTGCTGGAAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	120	123			NA	NA	5		NA											NA				121188177		2203	4300	6503	SO:0001819	synonymous_variant			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867	94033	94033			17345	protein-coding gene	gene with protein product		608847			NA	11323407	Standard	NM_177478	NM_177478	NA	Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.519G>A	5.37:g.121188177G>A		NA		37	CCDS4128.1																																																																																			FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250884.1		+	ENST00000321339.1	Silent	SNP	5 : 121188177 - 121188177 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	610	34
HM13	81502	broad.mit.edu	37	20	30125989	30125989	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30125989C>G	ENST00000335574.5	+	3	414	c.290C>G	c.(289-291)tCc>tGc	p.S97C	HM13_ENST00000340852.5_Missense_Mutation_p.S97C|HM13_ENST00000376127.3_Missense_Mutation_p.S97C|HM13_ENST00000398174.3_Missense_Mutation_p.S97C	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	97					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CAGATATTCTCCCAGGAGTAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	106	111			NA	NA	20		NA											NA				30125989		2203	4300	6503	SO:0001583	missense			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294	81502	81502			16435	protein-coding gene	gene with protein product	signal peptide peptidase beta, presenilin-like protein 3, intramembrane protease, signal peptide peptidase like 1	607106			NA	12077416, 14704149	Standard	NM_178580	NM_030789	NA	Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000335574.5:c.290C>G	20.37:g.30125989C>G	ENSP00000335294:p.Ser97Cys	NA	B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	37	CCDS13183.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826944	0.90955	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.46	5.46	0.80206	.	0.098626	0.64402	D	0.000001	T	0.57666	0.2069	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.987;0.982;0.987	T	0.67692	-0.5605	10	0.62326	D	0.03	-3.5946	17.8794	0.88835	0.0:1.0:0.0:0.0	.	97;97;97;97	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	C	97	ENSP00000335294:S97C;ENSP00000343032:S97C;ENSP00000381237:S97C;ENSP00000365296:S97C;ENSP00000341347:S97C	ENSP00000335294:S97C	S	+	2	0	HM13	29589650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.840000	0.75369	2.567000	0.86603	0.655000	0.94253	TCC	HM13-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078525.4		+	ENST00000335574.5	Missense_Mutation	SNP	20 : 30125989 - 30125989 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	513	74
HOXD1	3231	broad.mit.edu	37	2	177054576	177054576	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:177054576G>A	ENST00000331462.4	+	2	916	c.693G>A	c.(691-693)gcG>gcA	p.A231A		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCTCCAGCGCGATCCGCACGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	104	100			NA	NA	2		NA											NA				177054576		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645	3231	3231		Homeoboxes / ANTP class : HOXL subclass	5132	protein-coding gene	gene with protein product		142987	homeo box D1	HOX4, HOX4G	NA	1973146, 1358459	Standard		NM_024501	NA	Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.693G>A	2.37:g.177054576G>A		NA	B2RAB4	37	CCDS2271.1																																																																																			HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255693.2		+	ENST00000331462.4	Silent	SNP	2 : 177054576 - 177054576 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	685	10
IGSF9B	22997	broad.mit.edu	37	11	133807360	133807360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:133807360G>A	ENST00000533871.2	-	5	820	c.590C>T	c.(589-591)tCg>tTg	p.S197L	IGSF9B_ENST00000321016.8_Missense_Mutation_p.S197L	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	197	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGACTGACCGATGTCACTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	70	67			NA	NA	11		NA											NA				133807360		2179	4251	6430	SO:0001583	missense			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20			22997	22997		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	32326	protein-coding gene	gene with protein product		613773			NA		Standard	XM_290502	NM_001277285	NA	Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.590C>T	11.37:g.133807360G>A	ENSP00000436552:p.Ser197Leu	NA		37		.	.	.	.	.	.	.	.	.	.	G	18.11	3.551849	0.65311	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160	T;T;T;D	0.96459	-0.76;-1.21;-0.76;-4.02	5.54	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96380	0.8819	M	0.62266	1.93	0.09310	N	0.999997	D	0.52996	0.957	P	0.50537	0.643	D	0.91429	0.5164	9	0.52906	T	0.07	.	15.4985	0.75677	0.0:0.0:0.8604:0.1396	.	197	Q9UPX0	TUTLB_HUMAN	L	197;39;197;187	ENSP00000317980:S197L;ENSP00000436552:S39L;ENSP00000436576:S197L;ENSP00000434026:S187L	ENSP00000317980:S197L	S	-	2	0	IGSF9B	133312570	0.981000	0.34729	0.039000	0.18376	0.979000	0.70002	4.882000	0.63121	1.289000	0.44618	0.561000	0.74099	TCG	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471431.1		-	ENST00000533871.2	Missense_Mutation	SNP	11 : 133807360 - 133807360 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	317	81
INTU	27152	broad.mit.edu	37	4	128626895	128626895	+	Silent	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:128626895A>G	ENST00000335251.6	+	11	1819	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	NA										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATCACCTCCGACCTTTGGCAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	141	144			NA	NA	4		NA											NA				128626895		2203	4300	6503	SO:0001819	synonymous_variant			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066	27152	27152			29239	protein-coding gene	gene with protein product		610621	PDZ domain containing 6, inturned planar cell polarity effector homolog (Drosophila)	PDZK6, PDZD6	NA	10574462, 21761479	Standard	XM_371707	NM_015693	NA	Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1716A>G	4.37:g.128626895A>G		NA	A1L4N5|Q4W5I8|Q86V55	37	CCDS34061.1																																																																																			INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364147.2		+	ENST00000335251.6	Silent	SNP	4 : 128626895 - 128626895 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	892	17
IQCB1	9657	broad.mit.edu	37	3	121526279	121526279	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:121526279C>A	ENST00000310864.6	-	7	713	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	IQCB1_ENST00000349820.6_Missense_Mutation_p.D167Y	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	167					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AAGAAATGATCACTTTGTAGT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	113			NA	NA	3		NA											NA				121526279		2203	4297	6500	SO:0001583	missense			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226	9657	9657			28949	protein-coding gene	gene with protein product	nephrocystin-5	609237	IQ calmodulin-binding motif containing 1		NA	15723066	Standard	NM_014642	NM_001023571	NA	Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.499G>T	3.37:g.121526279C>A	ENSP00000311505:p.Asp167Tyr	NA	Q5DKQ7|Q8NI79|Q9BS08	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849869	0.51270	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.36520	1.25;2.89	5.2	5.2	0.72013	.	0.355758	0.34156	N	0.004215	T	0.41282	0.1152	L	0.27053	0.805	0.31110	N	0.710065	P;D	0.63046	0.91;0.992	B;P	0.56960	0.424;0.81	T	0.44605	-0.9317	10	0.72032	D	0.01	-6.9459	14.1128	0.65134	0.0:1.0:0.0:0.0	.	167;167	Q15051;Q15051-2	IQCB1_HUMAN;.	Y	167	ENSP00000311505:D167Y;ENSP00000323756:D167Y	ENSP00000311505:D167Y	D	-	1	0	IQCB1	123008969	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.598000	0.36740	2.706000	0.92434	0.557000	0.71058	GAT	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250573.1		-	ENST00000310864.6	Missense_Mutation	SNP	3 : 121526279 - 121526279 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	906	19
ITGA6	3655	broad.mit.edu	37	2	173356152	173356152	+	Splice_Site	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:173356152G>A	ENST00000264107.7	+	23	3123		c.e23-1		ITGA6_ENST00000409532.1_Splice_Site|ITGA6_ENST00000409080.1_Splice_Site|ITGA6_ENST00000375221.2_Splice_Site|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Splice_Site|ITGA6_ENST00000343713.4_Splice_Site	NM_000210.2	NP_000201.2	P23229	ITA6_HUMAN	integrin, alpha 6	NA					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTCCAAACAGGAATATTCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Unknown(2)	lung(2)											93	84	87			NA	NA	2		NA											NA				173356152		2203	4300	6503	SO:0001630	splice_region_variant				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409	NA	3655		CD molecules, Integrins	6142	protein-coding gene	gene with protein product		147556			NA		Standard		NM_001079818	NA	Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264107.7:c.2890-1G>A	2.37:g.173356152G>A		NA	B2RMU9|B4DG69|B4DKB8|C4AM96|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	37	CCDS2249.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408478	0.62399	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7456	0.91791	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA6	173064398	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	8.573000	0.90759	2.432000	0.82394	0.467000	0.42956	.	ITGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255369.2	Intron	+	ENST00000264107.7	Splice_Site	SNP	2 : 173356152 - 173356152 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	384	17
IVL	3713	broad.mit.edu	37	1	152882593	152882593	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:152882593A>G	ENST00000368764.3	+	2	384	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGAGCAGCAGCTTAAGCAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	1		NA											NA				152882593		2203	4300	6503	SO:0001583	missense			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207	3713	3713			6187	protein-coding gene	gene with protein product		147360			NA	2873896	Standard	NM_005547	NM_005547	NA	Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.320A>G	1.37:g.152882593A>G	ENSP00000357753:p.Gln107Arg	NA	Q5T7P4	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447930	0.26074	.	.	ENSG00000163207	ENST00000368764	T	0.10573	2.86	4.46	3.29	0.37713	.	.	.	.	.	T	0.07279	0.0184	N	0.19112	0.55	0.47407	D	0.999415	D	0.59357	0.985	D	0.65233	0.933	T	0.31081	-0.9956	9	0.33141	T	0.24	.	8.638	0.33959	0.8286:0.0:0.0:0.1714	.	107	P07476	INVO_HUMAN	R	107	ENSP00000357753:Q107R	ENSP00000357753:Q107R	Q	+	2	0	IVL	151149217	0.000000	0.05858	0.055000	0.19348	0.058000	0.15608	0.047000	0.14056	0.800000	0.34041	0.402000	0.26972	CAG	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034664.1		+	ENST00000368764.3	Missense_Mutation	SNP	1 : 152882593 - 152882593 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	236	41
KCNQ5	56479	broad.mit.edu	37	6	73904417	73904417	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:73904417G>A	ENST00000342056.2	+	15	2534	c.2136G>A	c.(2134-2136)acG>acA	p.T712T	KCNQ5_ENST00000403813.2_Silent_p.T684T|KCNQ5_ENST00000370398.1_Silent_p.T693T|KCNQ5_ENST00000414165.2_Silent_p.T583T|KCNQ5_ENST00000402622.2_Silent_p.T703T|KCNQ5_ENST00000355194.4_Silent_p.T693T|KCNQ5_ENST00000355635.3_Silent_p.T694T	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	693					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCATTCTGACGCCAAATGAGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(142;1375 1859 14391 23261 44706)							NA				0													129	129	129			NA	NA	6		NA											NA				73904417		2203	4300	6503	SO:0001819	synonymous_variant			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760	56479	56479		Potassium channels, Voltage-gated ion channels / Potassium channels	6299	protein-coding gene	gene with protein product		607357			NA	10787416, 10816588, 16382104	Standard	NM_019842	NM_019842	NA	Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000342056.2:c.2136G>A	6.37:g.73904417G>A		NA	B5MC83|B7ZL37|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	37	CCDS55034.1																																																																																			KCNQ5-006	NOVEL	not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316124.1		+	ENST00000342056.2	Silent	SNP	6 : 73904417 - 73904417 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	645	142
KIF26B	55083	broad.mit.edu	37	1	245772663	245772663	+	Missense_Mutation	SNP	C	C	T	rs115703444	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:245772663C>T	ENST00000366518.4	+	5	708	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KIF26B_ENST00000407071.2_Missense_Mutation_p.R583C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	583					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATAAACGAACGCAAGGAAAA	0.567		NA											C	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8271	LOWCOV,EXOME	NA	NA	0.0035	SNP								NA				0								C	CYS/ARG	1,3841		0,1,1920	36	37	37		1747	5.2	1	1	dbSNP_132	37	0,8244		0,0,4122	yes	missense	KIF26B	NM_018012.3	180	0,1,6042	TT,TC,CC	NA	0.0,0.026,0.0083	probably-damaging	583/2109	245772663	1,12085	1921	4122	6043	SO:0001583	missense			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849	55083	55083		Kinesins	25484	protein-coding gene	gene with protein product		614026			NA		Standard	XM_371354	NM_018012	NA	Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000366518.4:c.604C>T	1.37:g.245772663C>T	ENSP00000355475:p.Arg202Cys	NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.12	2.440500	0.43326	2.6E-4	0.0	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76060	-0.99;-0.99	5.22	5.22	0.72569	Kinesin, motor domain (4);	.	.	.	.	T	0.79015	0.4375	L	0.52364	1.645	0.80722	D	1	P;P	0.48407	0.91;0.869	P;P	0.51550	0.488;0.673	T	0.80223	-0.1471	9	0.56958	D	0.05	.	19.1397	0.93443	0.0:1.0:0.0:0.0	.	202;583	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	583;202;199	ENSP00000385545:R583C;ENSP00000355475:R202C	ENSP00000355475:R202C	R	+	1	0	KIF26B	243839286	1.000000	0.71417	0.976000	0.42696	0.742000	0.42306	2.108000	0.41854	2.590000	0.87494	0.650000	0.86243	CGC	KIF26B-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000096658.2		+	ENST00000366518.4	Missense_Mutation	SNP	1 : 245772663 - 245772663 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	111	20
KIFAP3	22920	broad.mit.edu	37	1	170015874	170015874	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:170015874G>T	ENST00000367765.1	-	3	1679	c.178C>A	c.(178-180)Cgt>Agt	p.R60S	KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R56S|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R100S	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	100					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGAATCACGGCGGTTCTGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	130	132			NA	NA	1		NA											NA				170015874		2203	4300	6503	SO:0001583	missense			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945	22920	22920			17060	protein-coding gene	gene with protein product	Smg GDS	601836			NA	8900189	Standard	NM_014970	NM_014970	NA	Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000367765.1:c.178C>A	1.37:g.170015874G>T	ENSP00000356739:p.Arg60Ser	NA	B2RDL1|Q8NHU7|Q9H416	37	CCDS55660.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162933	0.57476	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767	T;T;T	0.48522	0.81;0.81;0.81	5.62	5.62	0.85841	Armadillo-like helical (1);	0.045878	0.85682	D	0.000000	T	0.18635	0.0447	N	0.19112	0.55	0.80722	D	1	P;P	0.39920	0.695;0.47	B;B	0.36666	0.23;0.168	T	0.03630	-1.1018	9	.	.	.	-13.1783	12.8625	0.57922	0.0:0.0:0.7363:0.2637	.	56;100	B1AKU5;Q92845	.;KIFA3_HUMAN	S	100;60;56	ENSP00000354560:R100S;ENSP00000356739:R60S;ENSP00000356741:R56S	.	R	-	1	0	KIFAP3	168282498	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	3.655000	0.54460	2.809000	0.96659	0.467000	0.42956	CGT	KIFAP3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087569.1		-	ENST00000367765.1	Missense_Mutation	SNP	1 : 170015874 - 170015874 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	704	15
KLHDC3	116138	broad.mit.edu	37	6	42985680	42985680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:42985680T>C	ENST00000326974.4	+	4	616	c.421T>C	c.(421-423)Tac>Cac	p.Y141H	KLHDC3_ENST00000244670.8_Intron|KLHDC3_ENST00000332245.8_Missense_Mutation_p.Y82H	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	141					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAAGATCATGTACATTTTTGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	117			NA	NA	6		NA											NA				42985680		2203	4300	6503	SO:0001583	missense			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702	116138	116138			20704	protein-coding gene	gene with protein product		611248			NA	12444059, 12606021	Standard	NM_057161	NM_057161	NA	Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.421T>C	6.37:g.42985680T>C	ENSP00000313995:p.Tyr141His	NA	A8K2W9	37	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033569	0.75504	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116;ENST00000332245	T;T	0.24350	1.86;1.86	5.15	5.15	0.70609	Kelch-type beta propeller (1);	0.065520	0.64402	D	0.000006	T	0.61590	0.2359	H	0.98276	4.19	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.73708	0.981;0.981;0.981	T	0.78833	-0.2048	10	0.87932	D	0	.	14.9695	0.71223	0.0:0.0:0.0:1.0	.	141;82;141	E7ENU0;E7ERR0;Q9BQ90	.;.;KLDC3_HUMAN	H	141;141;141;114;82	ENSP00000313995:Y141H;ENSP00000331562:Y82H	ENSP00000313995:Y141H	Y	+	1	0	KLHDC3	43093658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.693000	0.84214	1.950000	0.56595	0.459000	0.35465	TAC	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040570.1		+	ENST00000326974.4	Missense_Mutation	SNP	6 : 42985680 - 42985680 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	560	8
KLHL14	57565	broad.mit.edu	37	18	30322007	30322007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:30322007C>T	ENST00000359358.4	-	3	1391	c.953G>A	c.(952-954)cGc>cAc	p.R318H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R318H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	318						cytosol|endoplasmic reticulum membrane		p.R318H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTTGTTAGAGCGAATTCTTCA	0.428		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)											97	92	94			NA	NA	18		NA											NA				30322007		2203	4300	6503	SO:0001583	missense			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705	57565	57565		Kelch-like, BTB/POZ domain containing	29266	protein-coding gene	gene with protein product	printor	613772	kelch-like 14 (Drosophila)		NA	10718198, 19535332	Standard		NM_020805	NA	Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.953G>A	18.37:g.30322007C>T	ENSP00000352314:p.Arg318His	NA	A6NNW1|B4DHA0|Q8WU41	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025617	0.75390	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;D	0.81996	-1.21;-1.56	6.11	6.11	0.99139	Galactose oxidase, beta-propeller (1);	0.053328	0.85682	D	0.000000	D	0.92267	0.7547	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.92111	0.5696	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	318	Q9P2G3	KLH14_HUMAN	H	318	ENSP00000352314:R318H;ENSP00000350808:R318H	ENSP00000350808:R318H	R	-	2	0	KLHL14	28576005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.906000	0.99361	0.655000	0.94253	CGC	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448376.1		-	ENST00000359358.4	Missense_Mutation	SNP	18 : 30322007 - 30322007 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	345	9
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				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	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		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.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	452	98
LOX	4015	broad.mit.edu	37	5	121409724	121409724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121409724C>T	ENST00000231004.4	-	4	1318	c.1019G>A	c.(1018-1020)tGt>tAt	p.C340Y	SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	340	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTGTGCAGTACATGCAAATCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	183	187			NA	NA	5		NA											NA				121409724		2203	4300	6503	SO:0001583	missense				CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	4015	4015	1.4.3.13		6664	protein-coding gene	gene with protein product		153455			NA	1685472	Standard		NM_002317	NA	Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.1019G>A	5.37:g.121409724C>T	ENSP00000231004:p.Cys340Tyr	NA	B2R5Q3|Q5FWF0	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811350	0.90707	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.45668	0.89	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81088	-0.1091	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	340	P28300	LYOX_HUMAN	Y	340;300	ENSP00000231004:C340Y	ENSP00000231004:C340Y	C	-	2	0	LOX	121437623	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	7.487000	0.81328	2.835000	0.97688	0.650000	0.86243	TGT	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250887.2		-	ENST00000231004.4	Missense_Mutation	SNP	5 : 121409724 - 121409724 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	888	58
LRBA	987	broad.mit.edu	37	4	151199141	151199141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:151199141G>A	ENST00000510413.1	-	56	8613	c.8329C>T	c.(8329-8331)Cga>Tga	p.R2777*	LRBA_ENST00000357115.3_Nonsense_Mutation_p.R2789*|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Nonsense_Mutation_p.R2778*	NM_001199282.2	NP_001186211.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2789						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCCCATCTCGGCTCAGCTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	61	64			NA	NA	4		NA											NA				151199141		2203	4300	6503	SO:0001587	stop_gained			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589	987	987		WD repeat domain containing	1742	protein-coding gene	gene with protein product		606453		CDC4L	NA	1505956, 11254716	Standard		NM_006726	NA	Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000510413.1:c.8329C>T	4.37:g.151199141G>A	ENSP00000421552:p.Arg2777*	NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	37	CCDS58928.1	.	.	.	.	.	.	.	.	.	.	G	51	18.130073	0.99899	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	.	.	.	5.23	4.38	0.52667	.	0.062472	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4711	0.67517	0.0:0.0:0.7348:0.2652	.	.	.	.	X	2778;2777;2789	.	ENSP00000349629:R2789X	R	-	1	2	LRBA	151418591	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.422000	0.44696	1.176000	0.42840	0.655000	0.94253	CGA	LRBA-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364938.1		-	ENST00000510413.1	Nonsense_Mutation	SNP	4 : 151199141 - 151199141 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	324	15
LYST	1130	broad.mit.edu	37	1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTTCACATCGCAAAATTTCT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	1		NA											NA				235944227		2202	4300	6502	SO:0001587	stop_gained			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5152C>T	1.37:g.235944227G>A	ENSP00000374444:p.Arg1718*	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.019982	0.99627	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	4.11	0.48088	.	0.354342	0.31872	N	0.006937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6163	0.56578	0.0:0.0:0.6889:0.3111	.	.	.	.	X	1718	.	ENSP00000374443:R1718X	R	-	1	2	LYST	234010850	0.998000	0.40836	0.850000	0.33497	0.976000	0.68499	2.716000	0.47219	1.193000	0.43086	0.467000	0.42956	CGA	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Nonsense_Mutation	SNP	1 : 235944227 - 235944227 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	367	6
MEGF6	1953	broad.mit.edu	37	1	3511972	3511972	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:3511972C>T	ENST00000356575.4	-	3	532	c.306G>A	c.(304-306)acG>acA	p.T102T		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	102	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCGGGCCTCCGTGGTATACA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(73;978 3658)							NA				0										1,4033		0,1,2016	35	43	40		306	-4.7	0	1		40	0,8354		0,0,4177	no	coding-synonymous	MEGF6	NM_001409.3		0,1,6193	TT,TC,CC	NA	0.0,0.0248,0.0081		102/1542	3511972	1,12387	2017	4177	6194	SO:0001819	synonymous_variant			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591	1953	1953			3232	protein-coding gene	gene with protein product		604266	EGF-like-domain, multiple 3	EGFL3	NA	9693030	Standard	NM_001409	NM_001409	NA	Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.306G>A	1.37:g.3511972C>T		NA	Q4AC86|Q5VV39	37	CCDS41237.1																																																																																			MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354866.1		-	ENST00000356575.4	Silent	SNP	1 : 3511972 - 3511972 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	373	27
MICAL2	9645	broad.mit.edu	37	11	12247727	12247727	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:12247727C>G	ENST00000256194.4	+	14	1986	c.1698C>G	c.(1696-1698)gaC>gaG	p.D566E	MICAL2_ENST00000379612.3_Missense_Mutation_p.D566E|MICAL2_ENST00000537344.1_Missense_Mutation_p.D566E|MICAL2_ENST00000342902.5_Missense_Mutation_p.D566E|MICAL2_ENST00000527546.1_Missense_Mutation_p.D566E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	566	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCAACTTTGACTCTTTGAATG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	102	100			NA	NA	11		NA											NA				12247727		2201	4294	6495	SO:0001583	missense			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816	9645	9645			24693	protein-coding gene	gene with protein product		608881			NA	12110185	Standard	NM_014632	XM_005253249	NA	Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1698C>G	11.37:g.12247727C>G	ENSP00000256194:p.Asp566Glu	NA	D3DQW5|Q7Z3A8	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846635	0.51164	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.39	5.39	0.77823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.37750	1.13	0.53005	D	0.999962	B;B;B;B;B	0.10296	0.0;0.001;0.002;0.003;0.0	B;B;B;B;B	0.20184	0.006;0.026;0.028;0.026;0.004	T	0.35450	-0.9788	10	0.28530	T	0.3	.	10.6994	0.45918	0.0:0.879:0.0:0.121	.	566;566;566;566;566	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	E	566;99;566;566;566;566	ENSP00000441689:D566E;ENSP00000256194:D566E;ENSP00000433965:D566E;ENSP00000344894:D566E;ENSP00000368932:D566E	ENSP00000256194:D566E	D	+	3	2	MICAL2	12204303	0.979000	0.34478	1.000000	0.80357	0.988000	0.76386	0.260000	0.18424	2.526000	0.85167	0.563000	0.77884	GAC	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385993.1		+	ENST00000256194.4	Missense_Mutation	SNP	11 : 12247727 - 12247727 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	449	12
MTUS2	23281	broad.mit.edu	37	13	29600278	29600278	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:29600278G>A	ENST00000431530.3	+	1	1531	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	481						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAACAAGACGGAGGTGCCTG	0.517		NA											g	1	5e-04	0.002	NA	2184	NA	0.9997	,	,	NA	4e-04	NA	NA	NA	6e-04	0.7844	EXOME	NA	NA	6e-04	SNP								NA				0								G		0,3934		0,0,1967	83	90	88		1473	-3.7	0	13		88	1,8305		0,1,4152	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6119	AA,AG,GG	NA	0.012,0.0,0.0082		491/1380	29600278	1,12239	1967	4153	6120	SO:0001819	synonymous_variant			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938	23281	23281			20595	protein-coding gene	gene with protein product	+TIP of 150 kDa, cardiac zipper protein		KIAA0774	KIAA0774	NA	19543227	Standard	XM_166270	NM_001033602	NA	Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1473G>A	13.37:g.29600278G>A		NA	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	37	CCDS45022.1																																																																																			MTUS2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044336.3		+	ENST00000431530.3	Silent	SNP	13 : 29600278 - 29600278 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	230	43
MUC2	4583	broad.mit.edu	37	11	1096405	1096405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:1096405G>A	ENST00000441003.2	+	34	6457	c.6430G>A	c.(6430-6432)Gtg>Atg	p.V2144M	MUC2_ENST00000361558.6_Missense_Mutation_p.V282M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4506						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCACCTACGTGCTGGTGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	102	98			NA	NA	11		NA											NA				1096405		2169	4272	6441	SO:0001583	missense			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	4583	4583		Mucins	7512	protein-coding gene	gene with protein product		158370	mucin 2, intestinal/tracheal		NA	15081123	Standard	NM_002457	NM_002457	NA	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6430G>A	11.37:g.1096405G>A	ENSP00000415183:p.Val2144Met	NA	Q14878	37		.	.	.	.	.	.	.	.	.	.	g	15.11	2.735694	0.49045	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.62364	0.03;0.03	3.95	3.04	0.35103	.	.	.	.	.	T	0.75332	0.3835	M	0.80422	2.495	0.09310	N	1	D	0.76494	0.999	P	0.62014	0.897	T	0.63844	-0.6545	9	0.72032	D	0.01	.	9.045	0.36341	0.1805:0.0:0.8195:0.0	.	2144	E7EUV1	.	M	2144;282	ENSP00000415183:V2144M;ENSP00000354885:V282M	ENSP00000354885:V282M	V	+	1	0	MUC2	1086405	1.000000	0.71417	0.942000	0.38095	0.747000	0.42532	3.053000	0.49901	0.869000	0.35703	0.479000	0.44913	GTG	MUC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000345894.2		+	ENST00000441003.2	Missense_Mutation	SNP	11 : 1096405 - 1096405 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	382	86
MYLK2	85366	broad.mit.edu	37	20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	95	103			NA	NA	20		NA											NA				30414610		2203	4300	6503	SO:0001583	missense			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	85366	85366	2.7.11.18		16243	protein-coding gene	gene with protein product	skeletal muscle myosin light chain kinase	606566	myosin light chain kinase 2, skeletal muscle		NA		Standard	NM_033118	NM_033118	NA	Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1093G>A	20.37:g.30414610G>A	ENSP00000365162:p.Gly365Arg	NA	Q569L1|Q96I84	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370531	0.82573	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.57273	0.41;0.41	3.66	3.66	0.41972	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70168	0.3193	M	0.83012	2.62	0.58432	D	0.999999	D	0.67145	0.996	P	0.59595	0.86	T	0.77606	-0.2525	9	0.87932	D	0	.	14.5797	0.68278	0.0:0.0:1.0:0.0	.	365	Q9H1R3	MYLK2_HUMAN	R	365	ENSP00000365162:G365R;ENSP00000365152:G365R	ENSP00000365152:G365R	G	+	1	0	MYLK2	29878271	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.494000	0.97962	1.882000	0.54519	0.435000	0.28638	GGA	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078583.2		+	ENST00000375994.2	Missense_Mutation	SNP	20 : 30414610 - 30414610 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	169	6
MYO7B	4648	broad.mit.edu	37	2	128335762	128335762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:128335762C>T	ENST00000409816.2	+	8	936	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	MYO7B_ENST00000428314.1_Missense_Mutation_p.R302C|MYO7B_ENST00000389524.4_Missense_Mutation_p.R302C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	302	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCCACATCCGCTCGGCCAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4248		0,0,2124	62	68	66		904	3.4	0.9	2		66	1,8451		0,1,4225	no	missense	MYO7B	NM_001080527.1	180	0,1,6349	TT,TC,CC	NA	0.0118,0.0,0.0079	possibly-damaging	302/2117	128335762	1,12699	2124	4226	6350	SO:0001583	missense				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994	4648	4648		Myosins / Myosin superfamily : Class VII	7607	protein-coding gene	gene with protein product		606541			NA	8022818, 8884266	Standard	XM_291001	NM_001080527	NA	Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.904C>T	2.37:g.128335762C>T	ENSP00000386461:p.Arg302Cys	NA	Q14786|Q8TEE1	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740794	0.69304	0.0	1.18E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88431	-2.38;-2.38;-2.38	4.25	3.36	0.38483	Myosin head, motor domain (2);	0.061993	0.64402	D	0.000003	D	0.87569	0.6210	M	0.79475	2.455	0.80722	D	1	P	0.40250	0.709	B	0.36289	0.221	D	0.88167	0.2861	10	0.87932	D	0	.	12.4074	0.55447	0.0:0.9171:0.0:0.0828	.	302	Q6PIF6	MYO7B_HUMAN	C	302	ENSP00000374175:R302C;ENSP00000415090:R302C;ENSP00000386461:R302C	ENSP00000374175:R302C	R	+	1	0	MYO7B	128052232	0.998000	0.40836	0.872000	0.34217	0.964000	0.63967	3.741000	0.55090	1.136000	0.42199	0.563000	0.77884	CGC	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331124.3		+	ENST00000409816.2	Missense_Mutation	SNP	2 : 128335762 - 128335762 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	225	37
NEURL	0	broad.mit.edu	37	10	105349367	105349367	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:105349367A>C	ENST00000369780.4	+	5	1845	c.1436A>C	c.(1435-1437)gAc>gCc	p.D479A	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.D462A	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		479					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCCTGTCTGACCCCTTGCTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	81			NA	NA	10		NA											NA				105349367		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000369780.4:c.1436A>C	10.37:g.105349367A>C	ENSP00000358795:p.Asp479Ala	NA	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850177	0.51270	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	5.2	5.2	0.72013	.	0.100580	0.64402	D	0.000003	T	0.57272	0.2042	M	0.65498	2.005	0.80722	D	1	B	0.17852	0.024	B	0.12156	0.007	T	0.53493	-0.8431	9	0.20046	T	0.44	-30.6731	11.069	0.47993	0.9249:0.0:0.0751:0.0	.	479	O76050	NEU1A_HUMAN	A	479;462	.	ENSP00000358792:D462A	D	+	2	0	NEURL	105339357	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.976000	0.70484	1.980000	0.57719	0.459000	0.35465	GAC	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050170.1		+	ENST00000369780.4	Missense_Mutation	SNP	10 : 105349367 - 105349367 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	476	11
NHS	4810	broad.mit.edu	37	X	17745920	17745920	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:17745920G>C	ENST00000380060.3	+	6	3969	c.3631G>C	c.(3631-3633)Gaa>Caa	p.E1211Q	NHS_ENST00000398097.3_Missense_Mutation_p.E1055Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1211						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGCGATCCAGAAACCATAAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	X		NA											NA				17745920		2203	4300	6503	SO:0001583	missense				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158	4810	4810			7820	protein-coding gene	gene with protein product		300457			NA		Standard	NM_198270	NM_001136024	NA	Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3631G>C	X.37:g.17745920G>C	ENSP00000369400:p.Glu1211Gln	NA	Q5J7Q0|Q5J7Q1|Q68DR5	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714361	0.30413	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.50277	0.8;0.75	5.79	5.79	0.91817	.	0.270289	0.35970	N	0.002870	T	0.47544	0.1451	L	0.54323	1.7	0.24754	N	0.992961	P;P;P;P	0.51933	0.919;0.919;0.919;0.949	P;P;P;P	0.47346	0.51;0.51;0.51;0.544	T	0.45381	-0.9265	10	0.17832	T	0.49	-17.3353	13.2279	0.59924	0.0773:0.0:0.9227:0.0	.	1232;1053;1055;1211	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Q	1211;1055;1053	ENSP00000369400:E1211Q;ENSP00000381170:E1055Q	ENSP00000369397:E1053Q	E	+	1	0	NHS	17655841	1.000000	0.71417	0.952000	0.39060	0.101000	0.19017	4.755000	0.62198	2.444000	0.82710	0.544000	0.68410	GAA	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059120.1		+	ENST00000380060.3	Missense_Mutation	SNP	X : 17745920 - 17745920 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	355	13
NPHP3	27031	broad.mit.edu	37	3	132407536	132407536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:132407536C>T	ENST00000337331.5	-	21	3169	c.3083G>A	c.(3082-3084)cGt>cAt	p.R1028H	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1028					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCAAGTTCACGAGCAGTATA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	112	110			NA	NA	3		NA											NA				132407536		2203	4300	6503	SO:0001583	missense			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971	27031	27031		Tetratricopeptide (TTC) repeat domain containing	7907	protein-coding gene	gene with protein product	nephrocystin-3, Meckel syndrome, type 7, cilia and flagella associated protein 31	608002			NA	12872122, 15381417	Standard	NM_153240	NM_153240	NA	Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3083G>A	3.37:g.132407536C>T	ENSP00000338766:p.Arg1028His	NA	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683896	0.88639	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	T	0.64085	-0.08	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.72481	-0.4280	10	0.52906	T	0.07	-17.9717	19.5469	0.95302	0.0:1.0:0.0:0.0	.	1028	Q7Z494	NPHP3_HUMAN	H	308;90;1028	ENSP00000338766:R1028H	ENSP00000338766:R1028H	R	-	2	0	NPHP3	133890226	1.000000	0.71417	0.896000	0.35187	0.560000	0.35617	5.823000	0.69272	2.632000	0.89209	0.491000	0.48974	CGT	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357020.2		-	ENST00000337331.5	Missense_Mutation	SNP	3 : 132407536 - 132407536 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	980	81
OR14C36	127066	broad.mit.edu	37	1	248513002	248513002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:248513002C>A	ENST00000317861.1	+	1	926	c.926C>A	c.(925-927)tCa>tAa	p.S309*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTTTTATTCAGAAAATGTG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	61	57			NA	NA	1		NA											NA				248513002		1968	3820	5788	SO:0001587	stop_gained			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174	127066	127066		GPCR / Class A : Olfactory receptors	15026	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily BF, member 1	OR5BF1	NA		Standard	NM_001001918	NM_001001918	NA	Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.926C>A	1.37:g.248513002C>A	ENSP00000324534:p.Ser309*	NA	Q6IEZ6	37	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118676	0.37436	.	.	ENSG00000177174	ENST00000317861	.	.	.	3.07	3.07	0.35406	.	1.879040	0.04039	U	0.302756	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9262	0.41494	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	ENSP00000324534:S309X	S	+	2	0	OR14C36	246579625	0.000000	0.05858	0.235000	0.24058	0.127000	0.20565	-0.623000	0.05546	1.773000	0.52216	0.388000	0.25769	TCA	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097359.1		+	ENST00000317861.1	Nonsense_Mutation	SNP	1 : 248513002 - 248513002 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	374	10
OR5B17	219965	broad.mit.edu	37	11	58126293	58126293	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:58126293G>T	ENST00000357377.3	-	1	249	c.250C>A	c.(250-252)Ctt>Att	p.L84I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCTATAAGCAACCCAGTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	11		NA											NA				58126293		2201	4295	6496	SO:0001583	missense			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786	219965	219965		GPCR / Class A : Olfactory receptors	15267	protein-coding gene	gene with protein product				OR5B20P	NA		Standard	NM_001005489	NM_001005489	NA	Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.250C>A	11.37:g.58126293G>T	ENSP00000349945:p.Leu84Ile	NA	Q6IEX1	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	3.439	-0.114369	0.06881	.	.	ENSG00000197786	ENST00000357377	T	0.00529	6.78	3.41	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.526148	0.14194	U	0.335150	T	0.00724	0.0024	M	0.73430	2.235	0.09310	N	1	B	0.20261	0.043	B	0.27608	0.081	T	0.34650	-0.9820	10	0.66056	D	0.02	-6.3521	9.1737	0.37098	0.1124:0.0:0.8876:0.0	.	84	Q8NGF7	OR5BH_HUMAN	I	84	ENSP00000349945:L84I	ENSP00000349945:L84I	L	-	1	0	OR5B17	57882869	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	-0.201000	0.09464	0.635000	0.30488	0.461000	0.40582	CTT	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394708.2		-	ENST00000357377.3	Missense_Mutation	SNP	11 : 58126293 - 58126293 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	252	56
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	12		NA											NA				55688832		2203	4300	6503	SO:0001583	missense				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324	283365	283365		GPCR / Class A : Olfactory receptors	31293	protein-coding gene	gene with protein product					NA		Standard		NM_001005493	NA	Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.185G>A	12.37:g.55688832C>T	ENSP00000351211:p.Arg62His	NA		37	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	3.881	-0.025966	0.07589	.	.	ENSG00000188324	ENST00000358433	T	0.01084	5.36	4.24	0.321	0.15883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000517	T	0.01800	0.0057	M	0.84219	2.685	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43065	-0.9414	10	0.66056	D	0.02	.	2.1956	0.03910	0.1224:0.4226:0.1199:0.335	.	62	A6NF89	OR6C6_HUMAN	H	62	ENSP00000351211:R62H	ENSP00000351211:R62H	R	-	2	0	OR6C6	53975099	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.335000	0.02662	-0.046000	0.13446	-1.274000	0.01402	CGT	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398151.1		-	ENST00000358433.2	Missense_Mutation	SNP	12 : 55688832 - 55688832 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	344	91
PCDH10	57575	broad.mit.edu	37	4	134084224	134084224	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:134084224C>G	ENST00000264360.5	+	4	3716	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCTGATGGACGCCAGGCTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	140	148			NA	NA	4		NA											NA				134084224		2203	4300	6503	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2890C>G	4.37:g.134084224C>G	ENSP00000264360:p.Arg964Gly	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749340	0.69533	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	5.24	5.24	0.73138	.	0.000000	0.40302	N	0.001138	T	0.54854	0.1884	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.61232	-0.7104	10	0.40728	T	0.16	.	18.6158	0.91302	0.0:1.0:0.0:0.0	.	964	Q9P2E7	PCD10_HUMAN	G	964	ENSP00000264360:R964G	ENSP00000264360:R964G	R	+	1	0	PCDH10	134303674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.717000	0.92951	0.650000	0.86243	CGC	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134084224 - 134084224 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	391	10
PCDHGA2	56113	broad.mit.edu	37	5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:140720214C>T	ENST00000394576.2	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1			protocadherin gamma subfamily A, 2	NA										breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	153	152			NA	NA	5		NA											NA				140720214		2203	4300	6503	SO:0001583	missense			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	56113	56113		Cadherins / Protocadherins : Clustered	8700	other	protocadherin		606289			NA	10380929	Standard	NM_018915	NM_018915	NA	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1676C>T	5.37:g.140720214C>T	ENSP00000378077:p.Ala559Val	NA		37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.268	0.606631	0.14002	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	1.19	0.21007	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	U	0.808345	T	0.07007	0.0178	M	0.69185	2.1	0.09310	N	1	B;B	0.22541	0.005;0.071	B;B	0.24394	0.053;0.033	T	0.41016	-0.9532	10	0.44086	T	0.13	.	10.0865	0.42421	0.0:0.7185:0.0:0.2815	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	559	ENSP00000378077:A559V	ENSP00000378077:A559V	A	+	2	0	PCDHGA2	140700398	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.115000	0.15540	0.005000	0.14708	-0.225000	0.12378	GCG	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374738.1		+	ENST00000394576.2	Missense_Mutation	SNP	5 : 140720214 - 140720214 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	983	48
PER1	5187	broad.mit.edu	37	17	8049954	8049955	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:8049954_8049955insT	ENST00000317276.4	-	15	2101_2102	c.1864_1865insA	c.(1864-1866)agcfs	p.S622fs	PER1_ENST00000581082.1_Frame_Shift_Ins_p.S602fs|PER1_ENST00000354903.5_Frame_Shift_Ins_p.S606fs	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	622	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTAGGAGCAGCTGGAGGCTTCT	0.639		NA	T	ETV6	AML, CMML			Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094	5187	5187			8845	protein-coding gene	gene with protein product		602260	period (Drosophila) homolog 1, period homolog 1 (Drosophila)	PER	NA	9323128	Standard		NM_002616	NA	Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1865dupA	17.37:g.8049955_8049955dupT	ENSP00000314420:p.Ser622fs	NA	B2RPA8|D3DTR3	37	CCDS11131.1																																																																																			PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441481.2		-	ENST00000317276.4	Frame_Shift_Ins	INS	17 : 8049954 - 8049955 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	241	41
PET112	0	broad.mit.edu	37	4	152626389	152626389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:152626389C>A	ENST00000515812.1	-	6	803	c.787G>T	c.(787-789)Gag>Tag	p.E263*	PET112_ENST00000512306.1_Nonsense_Mutation_p.E304*|PET112_ENST00000263985.6_Nonsense_Mutation_p.E304*			O75879	GATB_HUMAN		304						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTCCATTCTCAAGTTCATTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	116	122			NA	NA	4		NA											NA				152626389		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000515812.1:c.787G>T	4.37:g.152626389C>A	ENSP00000426859:p.Glu263*	NA	Q9P0S6|Q9Y2B8	37		.	.	.	.	.	.	.	.	.	.	C	19.57	3.852552	0.71719	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	.	.	.	5.39	4.52	0.55395	.	0.059821	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.4467	16.1726	0.81828	0.0:0.8671:0.1329:0.0	.	.	.	.	X	304;263;304	.	ENSP00000263985:E304X	E	-	1	0	PET112	152845839	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.903000	0.48711	2.514000	0.84764	0.655000	0.94253	GAG	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365672.1		-	ENST00000515812.1	Nonsense_Mutation	SNP	4 : 152626389 - 152626389 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	304	5
PEX3	8504	broad.mit.edu	37	6	143806383	143806383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:143806383C>A	ENST00000367591.4	+	11	1099	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	346					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCATTTTGTTCAGGTAAGAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	122	121			NA	NA	6		NA											NA				143806383		2203	4299	6502	SO:0001583	missense			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693	8504	8504			8858	protein-coding gene	gene with protein product		603164			NA	9657383	Standard		NM_003630	NA	Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.1036C>A	6.37:g.143806383C>A	ENSP00000356563:p.Gln346Lys	NA		37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953884	0.73902	.	.	ENSG00000034693	ENST00000367591	T	0.46819	0.86	5.45	4.56	0.56223	.	0.106414	0.64402	D	0.000003	T	0.53530	0.1802	L	0.58810	1.83	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.55256	-0.8169	10	0.40728	T	0.16	-8.3972	14.9919	0.71396	0.0:0.8564:0.1436:0.0	.	346	P56589	PEX3_HUMAN	K	346	ENSP00000356563:Q346K	ENSP00000356563:Q346K	Q	+	1	0	PEX3	143848076	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.691000	0.74573	1.257000	0.44085	0.650000	0.86243	CAG	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042525.1		+	ENST00000367591.4	Missense_Mutation	SNP	6 : 143806383 - 143806383 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	433	10
PHACTR1	221692	broad.mit.edu	37	6	13273094	13273094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:13273094G>A	ENST00000379350.1	+	10	1523	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	PHACTR1_ENST00000457702.2_Missense_Mutation_p.R320Q|PHACTR1_ENST00000379335.3_Missense_Mutation_p.R29Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R465Q|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R29Q|RP1-257A7.4_ENST00000606627.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	465						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTCCGTAGGCGGCTGAGCCAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	210	209			NA	NA	6		NA											NA				13273094		1889	4116	6005	SO:0001583	missense			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137	221692	221692		Phosphatase and actin regulators	20990	protein-coding gene	gene with protein product		608723	RPEL repeat containing 1	RPEL1	NA	11214970, 15107502	Standard	XM_166420	NM_030948	NA	Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1394G>A	6.37:g.13273094G>A	ENSP00000368655:p.Arg465Gln	NA	A8K1V2|Q3MJ93|Q5JSJ2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.030241|6.030241	0.97216|0.97216	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	.|T;T;T	.|0.56941	.|0.43;1.11;1.18	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72851|0.72851	0.3512|0.3512	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.91635	.|0.999;0.947	T|T	0.75536|0.75536	-0.3283|-0.3283	5|10	.|0.87932	.|D	.|0	-14.4638|-14.4638	19.29|19.29	0.94095|0.94095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|465;465	.|Q9C0D0;Q9C0D0-2	.|PHAR1_HUMAN;.	S|Q	300|465;465;320;29;29	.|ENSP00000368655:R465Q;ENSP00000329880:R465Q;ENSP00000397669:R320Q	.|ENSP00000329880:R465Q	G|R	+|+	1|2	0|0	PHACTR1|PHACTR1	13381073|13381073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	8.473000|8.473000	0.90410|0.90410	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GGC|CGG	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039876.1		+	ENST00000379350.1	Missense_Mutation	SNP	6 : 13273094 - 13273094 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	980	43
PITPNM2	57605	broad.mit.edu	37	12	123482085	123482085	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:123482085G>T	ENST00000280562.5	-	10	1464	c.1259C>A	c.(1258-1260)tCc>tAc	p.S420Y	PITPNM2_ENST00000320201.4_Missense_Mutation_p.S420Y|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S420Y|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S141Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	420					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGATCTTGGAGGGCGGTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	92			NA	NA	12		NA											NA				123482085		2203	4300	6503	SO:0001583	missense			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975	57605	57605			21044	protein-coding gene	gene with protein product		608920			NA	10022914	Standard	NM_020845	XM_005253582	NA	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000280562.5:c.1259C>A	12.37:g.123482085G>T	ENSP00000280562:p.Ser420Tyr	NA	Q9P271	37		.	.	.	.	.	.	.	.	.	.	G	18.94	3.730448	0.69074	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.83	3.93	0.45458	.	0.417988	0.23797	N	0.044466	T	0.22360	0.0539	N	0.08118	0	0.37075	D	0.898715	D;D	0.62365	0.98;0.991	P;P	0.58721	0.844;0.73	T	0.35624	-0.9781	10	0.87932	D	0	-38.3331	14.0007	0.64431	0.0:0.4813:0.5187:0.0	.	420;420	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	Y	420;420;141;420	ENSP00000280562:S420Y;ENSP00000322218:S420Y;ENSP00000376223:S141Y;ENSP00000437611:S420Y	ENSP00000280562:S420Y	S	-	2	0	PITPNM2	122048038	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.154000	0.64894	1.019000	0.39547	-0.300000	0.09419	TCC	PITPNM2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401341.1		-	ENST00000280562.5	Missense_Mutation	SNP	12 : 123482085 - 123482085 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	617	149
PKD1	5310	broad.mit.edu	37	16	2161454	2161454	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2161454G>A	ENST00000262304.4	-	15	3922	c.3714C>T	c.(3712-3714)ggC>ggT	p.G1238G	PKD1_ENST00000423118.1_Silent_p.G1238G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1238	PKD 7.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGATGTTGTCGCCCGTCTGCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	18	18			NA	NA	16		NA											NA				2161454		2109	4165	6274	SO:0001819	synonymous_variant			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710	5310	5310		Voltage-gated ion channels / Transient receptor potential cation channels	9008	protein-coding gene	gene with protein product	polycystin 1, transient receptor potential cation channel, subfamily P, member 1	601313			NA		Standard		NM_001009944	NA	Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3714C>T	16.37:g.2161454G>A		NA	Q15140|Q15141	37	CCDS32369.1																																																																																			PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341688.1		-	ENST00000262304.4	Silent	SNP	16 : 2161454 - 2161454 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	140	55
PLEC	5339	broad.mit.edu	37	8	144991972	144991972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144991972G>A	ENST00000322810.4	-	32	12597	c.12428C>T	c.(12427-12429)tCg>tTg	p.S4143L	PLEC_ENST00000354958.2_Missense_Mutation_p.S3984L|PLEC_ENST00000398774.2_Missense_Mutation_p.S3974L|PLEC_ENST00000436759.2_Missense_Mutation_p.S4033L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3992L|PLEC_ENST00000527096.1_Missense_Mutation_p.S4029L|PLEC_ENST00000345136.3_Missense_Mutation_p.S4006L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4006L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4010L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4143	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCTCGGCCGACAGCAGCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	2,4334		0,2,2166	45	53	51		12098,11975,11951,12428,11921,12017,12029,12017	5.1	1	8		51	0,8534		0,0,4267	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	145,145,145,145,145,145,145,145	0,2,6433	AA,AG,GG	NA	0.0,0.0461,0.0155	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	4033/4575,3992/4534,3984/4526,4143/4685,3974/4516,4006/4548,4010/4552,4006/4548	144991972	2,12868	2168	4267	6435	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12428C>T	8.37:g.144991972G>A	ENSP00000323856:p.Ser4143Leu	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279669	0.23307	4.61E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000014	D	0.84511	0.5488	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998;0.998;0.998;0.998	D	0.85805	0.1376	10	0.87932	D	0	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	4033;3992;3984;4143;3974;4006;4010;4006	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	4006;4010;4006;3974;4143;3984;3992;4033;4029	ENSP00000344848:S4006L;ENSP00000350277:S4010L;ENSP00000346602:S4006L;ENSP00000381756:S3974L;ENSP00000323856:S4143L;ENSP00000347044:S3984L;ENSP00000348702:S3992L;ENSP00000388180:S4033L;ENSP00000434583:S4029L	ENSP00000323856:S4143L	S	-	2	0	PLEC	145063960	1.000000	0.71417	0.996000	0.52242	0.232000	0.25224	9.595000	0.98260	2.654000	0.90174	0.549000	0.68633	TCG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144991972 - 144991972 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	344	12
PLXNA2	5362	broad.mit.edu	37	1	208390894	208390894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:208390894C>T	ENST00000367033.3	-	2	1131	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	125	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCCAGCAGGCGGTTCTCAGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	98			NA	NA	1		NA											NA				208390894		2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.374G>A	1.37:g.208390894C>T	ENSP00000356000:p.Arg125His	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793291	0.90453	.	.	ENSG00000076356	ENST00000367033	T	0.10573	2.86	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43798	-0.9369	10	0.87932	D	0	.	19.7016	0.96057	0.0:1.0:0.0:0.0	.	179;125	O75051-2;O75051	.;PLXA2_HUMAN	H	125	ENSP00000356000:R125H	ENSP00000356000:R125H	R	-	2	0	PLXNA2	206457517	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.512000	0.81728	2.662000	0.90505	0.514000	0.50259	CGC	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208390894 - 208390894 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	519	121
PRKDC	5591	broad.mit.edu	37	8	48790343	48790343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:48790343C>A	ENST00000523565.1	-	0	5360				PRKDC_ENST00000314191.2_Nonsense_Mutation_p.E1768*|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1768*			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)				TGCTGCTGTTCCCGACAAAGA	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													126	123	124			NA	NA	8		NA											NA				48790343		1872	4107	5979	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.-8148G>T	8.37:g.48790343C>A		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37		.	.	.	.	.	.	.	.	.	.	C	45	11.447149	0.99562	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.65	5.65	0.86999	.	0.056433	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7092	0.96085	0.0:1.0:0.0:0.0	.	.	.	.	X	1768	.	ENSP00000313420:E1768X	E	-	1	0	PRKDC	48952896	1.000000	0.71417	0.954000	0.39281	0.491000	0.33493	6.900000	0.75687	2.664000	0.90586	0.585000	0.79938	GAA	PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48790343 - 48790343 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	647	10
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	114			NA	NA	9		NA											NA				79323756		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3434C>T	9.37:g.79323756G>A	ENSP00000365908:p.Ala1145Val	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851	-0.238399	0.05944	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.08	6.08	0.98989	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	0.218000	0.23608	0.794000	0.32065	0.308000	0.27856	0.910000	0.28571	1.126000	0.42016	-0.254000	0.11334	GCG	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79323756 - 79323756 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	586	7
PTPDC1	138639	broad.mit.edu	37	9	96847575	96847575	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:96847575A>G	ENST00000288976.3	+	2	348	c.281A>G	c.(280-282)gAg>gGg	p.E94G	PTPDC1_ENST00000375360.3_Missense_Mutation_p.E42G	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	42							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGTAGGGGAGCGTTTACGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	89	94			NA	NA	9		NA											NA				96847575		2203	4300	6503	SO:0001583	missense			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079	138639	138639		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	30184	protein-coding gene	gene with protein product	protein tyrosine phosphatase PTP9Q22				NA	14702039	Standard	NM_177995, NM_152422	NM_152422	NA	Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000288976.3:c.281A>G	9.37:g.96847575A>G	ENSP00000288976:p.Glu94Gly	NA	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	37	CCDS6708.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.564213	0.86335	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.75589	-0.95;-0.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.83953	2.67	0.54753	D	0.999987	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.81914	0.981;0.992;0.971;0.995	D	0.88807	0.3289	10	0.87932	D	0	-27.4699	15.0953	0.72229	1.0:0.0:0.0:0.0	.	96;94;96;42	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	G	42;94	ENSP00000364509:E42G;ENSP00000288976:E94G	ENSP00000288976:E94G	E	+	2	0	PTPDC1	95887396	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.771000	0.91751	2.226000	0.72624	0.482000	0.46254	GAG	PTPDC1-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053171.2		+	ENST00000288976.3	Missense_Mutation	SNP	9 : 96847575 - 96847575 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	614	161
PWP1	11137	broad.mit.edu	37	12	108091262	108091262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:108091262G>A	ENST00000412830.3	+	7	800	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PWP1_ENST00000541166.1_Missense_Mutation_p.G149E	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	211					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ATTGCTGTAGGAAACATGACC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	127	129			NA	NA	12		NA											NA				108091262		2203	4300	6503	SO:0001583	missense			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045	11137	11137		WD repeat domain containing	17015	protein-coding gene	gene with protein product	endonuclein				NA	7828893, 11850830	Standard	NM_007062	NM_007062	NA	Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.632G>A	12.37:g.108091262G>A	ENSP00000387365:p.Gly211Glu	NA	A8K3R6	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936030	0.92458	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.44083	0.93;1.7	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.091825	0.85682	D	0.000000	T	0.73830	0.3637	M	0.93898	3.47	0.80722	D	1	D	0.59357	0.985	D	0.63488	0.915	T	0.80221	-0.1472	10	0.87932	D	0	.	19.8332	0.96644	0.0:0.0:1.0:0.0	.	211	Q13610	PWP1_HUMAN	E	211;211;211;211;149	ENSP00000387365:G211E;ENSP00000445249:G149E	ENSP00000258531:G211E	G	+	2	0	PWP1	106615392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.039000	0.93777	2.779000	0.95612	0.637000	0.83480	GGA	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406539.1		+	ENST00000412830.3	Missense_Mutation	SNP	12 : 108091262 - 108091262 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	777	38
RASGRF2	5924	broad.mit.edu	37	5	80376464	80376464	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80376464T>G	ENST00000265080.4	+	7	1084	c.1017T>G	c.(1015-1017)ttT>ttG	p.F339L	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	339	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCAAGAATTTGTGCGTAATC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	5		NA											NA				80376464		2203	4300	6503	SO:0001583	missense			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319	5924	5924		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	9876	protein-coding gene	gene with protein product		606614			NA		Standard	NM_006909	NM_006909	NA	Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1017T>G	5.37:g.80376464T>G	ENSP00000265080:p.Phe339Leu	NA	B9EG89|Q9UK56	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090469	0.94149	.	.	ENSG00000113319	ENST00000265080	T	0.68181	-0.31	5.7	4.55	0.56014	Dbl homology (DH) domain (5);	0.095640	0.85682	D	0.000000	T	0.75072	0.3800	L	0.50333	1.59	0.58432	D	0.999995	D;D	0.76494	0.999;0.994	D;D	0.69307	0.963;0.933	T	0.76160	-0.3061	10	0.72032	D	0.01	.	11.4093	0.49917	0.0:0.0702:0.0:0.9298	.	339;339	D6RAS9;O14827	.;RGRF2_HUMAN	L	339	ENSP00000265080:F339L	ENSP00000265080:F339L	F	+	3	2	RASGRF2	80412220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.483000	0.53194	1.006000	0.39211	0.459000	0.35465	TTT	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239215.2		+	ENST00000265080.4	Missense_Mutation	SNP	5 : 80376464 - 80376464 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	912	56
RGS12	6002	broad.mit.edu	37	4	3319755	3319755	+	Silent	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:3319755C>A	ENST00000382788.3	+	1	1961	c.1858C>A	c.(1858-1860)Cga>Aga	p.R620R	RGS12_ENST00000543385.1_Silent_p.R620R|RGS12_ENST00000344733.5_Silent_p.R620R|RGS12_ENST00000336727.3_Silent_p.R620R			O14924	RGS12_HUMAN	regulator of G-protein signaling 12	620						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCGAAATGTTCGAAAGACTAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	78	73			NA	NA	4		NA											NA				3319755		2203	4300	6503	SO:0001819	synonymous_variant			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	6002	6002		Regulators of G-protein signaling	9994	protein-coding gene	gene with protein product		602512	regulator of G-protein signalling 12		NA	9651375	Standard	NM_002926	NM_198229	NA	Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000382788.3:c.1858C>A	4.37:g.3319755C>A		NA	B1AQ30|B1AQ31|B1AQ32|O14922|O14923|O43510|O75338	37	CCDS3367.1																																																																																			RGS12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206603.1		+	ENST00000382788.3	Silent	SNP	4 : 3319755 - 3319755 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	535	10
RPL14	9045	broad.mit.edu	37	3	40503613	40503613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:40503613G>A	ENST00000396203.2	+	6	670	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	RPL14_ENST00000338970.6_Missense_Mutation_p.A180T|RPL14_ENST00000416518.1_3'UTR	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	180	4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				NA				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAGGTTCCTGCCCAGAAAGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	3		NA											NA				40503613		2202	4300	6502	SO:0001583	missense			D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846	9045	9045		L ribosomal proteins	10305	protein-coding gene	gene with protein product	CAG-ISL 7, 60S ribosomal protein L14				NA	9480843	Standard	NM_003973	NM_003973	NA	Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.538G>A	3.37:g.40503613G>A	ENSP00000379506:p.Ala180Thr	NA	Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	37	CCDS43070.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638177	0.29157	.	.	ENSG00000188846	ENST00000338970;ENST00000396203	T;T	0.51071	0.72;0.72	4.03	3.15	0.36227	.	0.000000	0.42821	U	0.000651	T	0.32194	0.0821	L	0.27053	0.805	0.22479	N	0.999065	B	0.02656	0.0	B	0.04013	0.001	T	0.27938	-1.0059	10	0.66056	D	0.02	.	8.253	0.31737	0.1159:0.0:0.8841:0.0	.	180	P50914	RL14_HUMAN	T	180	ENSP00000345156:A180T;ENSP00000379506:A180T	ENSP00000345156:A180T	A	+	1	0	RPL14	40478617	0.082000	0.21442	0.047000	0.18901	0.779000	0.44077	2.579000	0.46059	0.989000	0.38761	-0.154000	0.13518	GCC	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342889.2		+	ENST00000396203.2	Missense_Mutation	SNP	3 : 40503613 - 40503613 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	226	53
RPL15	6138	broad.mit.edu	37	3	23960714	23960715	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:23960714_23960715insT	ENST00000307839.5	+	4	976_977	c.337_338insT	c.(337-339)ctgfs	p.L113fs	RPL15_ENST00000435882.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000415719.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000354811.5_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000413699.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000456530.2_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	113					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTGTGGGGCTCTGAGAGTCCTG	0.421		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748	6138	6138		L ribosomal proteins	10306	protein-coding gene	gene with protein product		604174			NA	9582194	Standard	NM_002948	NM_002948	NA	Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.338dupT	3.37:g.23960715_23960715dupT	ENSP00000309334:p.Leu113fs	NA	P39030|P41051|Q5U0C0|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	37	CCDS2640.1																																																																																			RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252885.3		+	ENST00000307839.5	Frame_Shift_Ins	INS	3 : 23960714 - 23960715 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	456	122
SCN9A	6335	broad.mit.edu	37	2	167141148	167141148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:167141148G>A	ENST00000409672.1	-	12	2135	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R598*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R598*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R597*	NM_002977.3	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	597						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTGCTGCGTCGCTCCTGGGGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	102	100			NA	NA	2		NA											NA				167141148		2139	4260	6399	SO:0001587	stop_gained			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	6335	6335		Sodium channels, Voltage-gated ion channels / Sodium channels	10597	protein-coding gene	gene with protein product		603415	sodium channel, voltage-gated, type IX, alpha polypeptide		NA	7720699, 10198179, 16382098	Standard	NM_002977	NM_002977	NA	Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409672.1:c.1789C>T	2.37:g.167141148G>A	ENSP00000386306:p.Arg597*	NA	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918909	0.73098	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	.	.	.	5.64	3.8	0.43715	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1065	0.72324	0.0:0.0:0.7411:0.2589	.	.	.	.	X	597;598;598;597;462;462	.	ENSP00000304748:R598X	R	-	1	2	SCN9A	166849394	0.826000	0.29277	1.000000	0.80357	0.365000	0.29674	1.783000	0.38664	0.812000	0.34326	-0.270000	0.10280	CGA	SCN9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333636.1		-	ENST00000409672.1	Nonsense_Mutation	SNP	2 : 167141148 - 167141148 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	448	29
SCRIB	23513	broad.mit.edu	37	8	144891159	144891159	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144891159C>T	ENST00000356994.2	-	15	1741	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	SCRIB_ENST00000377533.3_Missense_Mutation_p.G498R|SCRIB_ENST00000320476.3_Missense_Mutation_p.G579R	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	579	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGTCATCCCCGGGCAGCAGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(51;966 1133 10533 14576 29674)							NA				0								C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	50	50	50		1735,1735	-7.9	0	8		50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SCRIB	NM_015356.3,NM_182706.3	125,125	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	579/1631,579/1656	144891159	1,13003	2203	4299	6502	SO:0001583	missense			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900	23513	23513			30377	protein-coding gene	gene with protein product		607733	scribbled homolog (Drosophila)		NA	11027293, 14681682	Standard	NM_015356	NM_182706	NA	Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000356994.2:c.1735G>A	8.37:g.144891159C>T	ENSP00000349486:p.Gly579Arg	NA	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	37	CCDS6412.1	.	.	.	.	.	.	.	.	.	.	c	7.938	0.742196	0.15642	0.0	1.16E-4	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.36340	1.49;1.45;1.26	4.79	-7.88	0.01178	.	.	.	.	.	T	0.13543	0.0328	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.001;0.004	T	0.25502	-1.0130	9	0.13853	T	0.58	.	5.0756	0.14630	0.0935:0.0875:0.2007:0.6183	.	579;579	Q14160;Q14160-3	SCRIB_HUMAN;.	R	579;579;498	ENSP00000349486:G579R;ENSP00000322938:G579R;ENSP00000366756:G498R	ENSP00000322938:G579R	G	-	1	0	SCRIB	144963147	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.067000	0.14510	-1.579000	0.01646	0.401000	0.26515	GGG	SCRIB-002	NOVEL	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382214.2		-	ENST00000356994.2	Missense_Mutation	SNP	8 : 144891159 - 144891159 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	519	31
SEMA6A	57556	broad.mit.edu	37	5	115782948	115782948	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:115782948C>T	ENST00000343348.6	-	19	3241	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	SEMA6A_ENST00000282394.6_Silent_p.L295L|SEMA6A_ENST00000503865.1_Silent_p.L197L|SEMA6A_ENST00000513137.1_Silent_p.L245L|SEMA6A_ENST00000257414.8_Silent_p.L835L|SEMA6A_ENST00000510263.1_Silent_p.L818L	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	818	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCGTGATGGGCAGGACCACCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	79	79			NA	NA	5		NA											NA				115782948		2058	4198	6256	SO:0001819	synonymous_variant			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421		57556	57556		Semaphorins	10738	protein-coding gene	gene with protein product	sema VIa	605885		SEMAQ	NA	9204478, 10993894	Standard	NM_020796	XM_006714663	NA	Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2454G>A	5.37:g.115782948C>T		NA	Q9P2H9	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	2.211	-0.380738	0.05000	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.11	2.34	0.29019	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49273	-0.8957	4	.	.	.	.	9.5769	0.39463	0.3536:0.5783:0.0:0.0681	.	.	.	.	Y	333	.	.	C	-	2	0	SEMA6A	115810847	0.999000	0.42202	0.997000	0.53966	0.854000	0.48673	0.742000	0.26216	-0.041000	0.13558	-2.997000	0.00077	TGC	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371270.1		-	ENST00000343348.6	Silent	SNP	5 : 115782948 - 115782948 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	523	38
SLCO5A1	81796	broad.mit.edu	37	8	70591817	70591817	+	Missense_Mutation	SNP	C	C	T	rs151145765	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:70591817C>T	ENST00000524945.1	-	7	2536	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R552H|SLCO5A1_ENST00000260126.4_Missense_Mutation_p.R607H	NM_001146008.1	NP_001139480.1	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	607						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCACTTGGCGACTTTGGAC	0.453		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	5e-04	NA	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	12,4394	20.2+/-43.8	0,12,2191	143	134	137		1820,1655,1820	5.6	1	8	dbSNP_134	137	0,8600		0,0,4300	yes	missense,missense,missense	SLCO5A1	NM_001146008.1,NM_001146009.1,NM_030958.2	29,29,29	0,12,6491	TT,TC,CC	NA	0.0,0.2724,0.0923	probably-damaging,probably-damaging,probably-damaging	607/688,552/794,607/849	70591817	12,12994	2203	4300	6503	SO:0001583	missense			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571	81796	81796		Solute carriers	19046	protein-coding gene	gene with protein product		613543	solute carrier family 21 (organic anion transporter), member 15	SLC21A15	NA	12507753	Standard	NM_030958	NM_030958	NA	Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000524945.1:c.1820G>A	8.37:g.70591817C>T	ENSP00000434422:p.Arg607His	NA	B2RPF7	37	CCDS55243.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	22.7	4.328881	0.81690	0.002724	0.0	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.41758	1.1;1.47;0.99	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000005	T	0.53222	0.1783	N	0.25890	0.77	0.49798	D	0.99982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.987;0.986	T	0.46331	-0.9199	10	0.30854	T	0.27	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	552;607;607	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	H	607;607;552	ENSP00000260126:R607H;ENSP00000434422:R607H;ENSP00000431611:R552H	ENSP00000260126:R607H	R	-	2	0	SLCO5A1	70754371	1.000000	0.71417	0.989000	0.46669	0.645000	0.38454	6.038000	0.70964	2.633000	0.89246	0.655000	0.94253	CGC	SLCO5A1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381991.1		-	ENST00000524945.1	Missense_Mutation	SNP	8 : 70591817 - 70591817 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	558	15
SLFN13	146857	broad.mit.edu	37	17	33767722	33767722	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:33767722C>T	ENST00000285013.6	-	6	2861	c.2586G>A	c.(2584-2586)agG>agA	p.R862R	SLFN13_ENST00000533791.1_Silent_p.R862R|SLFN13_ENST00000534689.1_Silent_p.R544R|SLFN13_ENST00000542635.1_Silent_p.R862R|SLFN13_ENST00000360502.2_Silent_p.R544R|SLFN13_ENST00000526861.1_Silent_p.R862R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	862						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACACTATGCTCCTTTCCAGGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													229	202	211			NA	NA	17		NA											NA				33767722		2203	4300	6503	SO:0001819	synonymous_variant			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760	146857	146857			26481	protein-coding gene	gene with protein product		614957			NA	9846487	Standard	NM_144682	NM_144682	NA	Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2586G>A	17.37:g.33767722C>T		NA	E1P645|Q658M1|Q6ZS51|Q96A81	37	CCDS32620.1																																																																																			SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381883.1		-	ENST00000285013.6	Silent	SNP	17 : 33767722 - 33767722 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	806	15
SMCR8	140775	broad.mit.edu	37	17	18220237	18220237	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:18220237C>T	ENST00000406438.3	+	1	1614	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	378										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGTGGAGGTCGATGACAGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	107			NA	NA	17		NA											NA				18220237		2203	4300	6503	SO:0001819	synonymous_variant			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994	140775	140775			17921	protein-coding gene	gene with protein product					NA	11997338, 23248642	Standard	NM_144775	NM_144775	NA	Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1134C>T	17.37:g.18220237C>T		NA	A5PKZ5|Q3ZCN0|Q6PJL3	37	CCDS11195.2																																																																																			SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132065.2		+	ENST00000406438.3	Silent	SNP	17 : 18220237 - 18220237 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	365	92
SON	6651	broad.mit.edu	37	21	34922623	34922623	+	Silent	SNP	G	G	A	rs143771064	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:34922623G>A	ENST00000381679.4	+	3	1114	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	SON_ENST00000290239.6_Silent_p.P362P|SON_ENST00000356577.4_Silent_p.P362P|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.P362P			P18583	SON_HUMAN	SON DNA binding protein	362					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGAGTTGCCGGAGCTGCCTA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	101	109	106		1086,1086	5.3	1	21	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SON	NM_032195.1,NM_138927.1	,	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	,	362/2304,362/2427	34922623	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140	6651	6651		G patch domain containing	11183	protein-coding gene	gene with protein product	NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1	182465		C21orf50	NA	8318737, 21551269	Standard	NM_138927	NM_032195	NA	Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000381679.4:c.1086G>A	21.37:g.34922623G>A		NA	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	37																																																																																				SON-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140982.3		+	ENST00000381679.4	Silent	SNP	21 : 34922623 - 34922623 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	452	7
STIL	6491	broad.mit.edu	37	1	47748097	47748097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:47748097T>C	ENST00000360380.3	-	12	1531	c.1168A>G	c.(1168-1170)Ata>Gta	p.I390V	STIL_ENST00000243182.6_Missense_Mutation_p.I390V|STIL_ENST00000337817.5_Missense_Mutation_p.I390V|STIL_ENST00000396221.2_Missense_Mutation_p.I390V|STIL_ENST00000371877.3_Missense_Mutation_p.I390V	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	390					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGATCATGTATTGGCATCTTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	119			NA	NA	1		NA											NA				47748097		2203	4300	6503	SO:0001583	missense			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473	6491	6491			10879	protein-coding gene	gene with protein product		181590	TAL1 (SCL) interrupting locus	SIL	NA	2209547	Standard	NM_003035	NM_003035	NA	Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1168A>G	1.37:g.47748097T>C	ENSP00000353544:p.Ile390Val	NA	Q5T0C5|Q68CN9	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	T	0.547	-0.850932	0.02651	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.74	-4.22	0.03800	.	0.663385	0.16965	N	0.192348	T	0.17916	0.0430	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.003	T	0.33701	-0.9858	10	0.08599	T	0.76	-1.1589	9.5812	0.39488	0.0:0.5654:0.122:0.3126	.	390;343;390;390;390	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	V	390;390;390;390;390;343	ENSP00000353544:I390V;ENSP00000337367:I390V;ENSP00000360944:I390V;ENSP00000379523:I390V;ENSP00000243182:I390V;ENSP00000411664:I343V	ENSP00000243182:I390V	I	-	1	0	STIL	47520684	0.053000	0.20554	0.184000	0.23157	0.125000	0.20455	-0.250000	0.08830	-0.747000	0.04759	0.459000	0.35465	ATA	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021649.2		-	ENST00000360380.3	Missense_Mutation	SNP	1 : 47748097 - 47748097 C PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	508	105
STK3	6788	broad.mit.edu	37	8	99468195	99468195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:99468195G>A	ENST00000523601.1	-	13	1834	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	STK3_ENST00000419617.2_Missense_Mutation_p.R451W	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	451	SARAH.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCTTTTAACCGCATCTGTAGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	104	108			NA	NA	8		NA											NA				99468195		1863	4109	5972	SO:0001583	missense			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375	6788	6788			11406	protein-coding gene	gene with protein product		605030	serine/threonine kinase 3 (Ste20, yeast homolog)		NA	8816758	Standard	NM_006281	NM_006281	NA	Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000523601.1:c.1435C>T	8.37:g.99468195G>A	ENSP00000429744:p.Arg479Trp	NA	A8K722|Q15445|Q15801|Q96FM6	37	CCDS59108.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.75260	-0.91;-0.92	5.51	4.58	0.56647	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.977;0.982	D	0.84708	0.0732	10	0.87932	D	0	.	12.0474	0.53487	0.0:0.0:0.6717:0.3283	.	451;479	Q13188;B3KYA7	STK3_HUMAN;.	W	451;479	ENSP00000390500:R451W;ENSP00000429744:R479W	ENSP00000390500:R451W	R	-	1	2	STK3	99537371	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.638000	0.37165	2.746000	0.94184	0.591000	0.81541	CGG	STK3-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379636.2		-	ENST00000523601.1	Missense_Mutation	SNP	8 : 99468195 - 99468195 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	173	6
TANGO6	79613	broad.mit.edu	37	16	68900986	68900986	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:68900986G>T	ENST00000261778.1	+	4	869	c.857G>T	c.(856-858)tGc>tTc	p.C286F		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)	NA											NA						TCTCAGTCCTGCACAGATGTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	84			NA	NA	16		NA											NA				68900986		1891	4123	6014	SO:0001583	missense				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047	79613	79613			25749	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 7	TMCO7	NA	11214970	Standard	XM_928235.2	NM_024562	NA	Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.857G>T	16.37:g.68900986G>T	ENSP00000261778:p.Cys286Phe	NA		37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317640	0.81469	.	.	ENSG00000103047	ENST00000261778	T	0.69306	-0.39	5.83	1.31	0.21738	.	.	.	.	.	T	0.64427	0.2597	M	0.68317	2.08	0.09310	N	1	D;D	0.56521	0.976;0.976	P;P	0.47744	0.556;0.556	T	0.54002	-0.8358	9	0.19147	T	0.46	-3.9034	8.3556	0.32329	0.1386:0.2362:0.6251:0.0	.	286;125	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	F	286	ENSP00000261778:C286F	ENSP00000261778:C286F	C	+	2	0	TMCO7	67458487	0.270000	0.24152	0.463000	0.27130	0.748000	0.42578	1.234000	0.32660	0.794000	0.33899	0.650000	0.86243	TGC	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433471.2		+	ENST00000261778.1	Missense_Mutation	SNP	16 : 68900986 - 68900986 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	468	88
TBL3	10607	broad.mit.edu	37	16	2024811	2024811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2024811G>A	ENST00000568546.1	+	6	555	c.427G>A	c.(427-429)Ggg>Agg	p.G143R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	143					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCGGCACTACGGGACACACCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(118;616 1651 35077 38081 48633)							NA				0													68	61	63			NA	NA	16		NA											NA				2024811		2198	4300	6498	SO:0001583	missense			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751	10607	10607		WD repeat domain containing	11587	protein-coding gene	gene with protein product		605915			NA	8307582	Standard	NM_006453	NM_006453	NA	Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.427G>A	16.37:g.2024811G>A	ENSP00000454836:p.Gly143Arg	NA	Q59GD6|Q8IVB7|Q96A78	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145173	0.57044	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.611855	0.18098	N	0.151764	T	0.40498	0.1119	N	0.02247	-0.625	0.42212	D	0.991811	D	0.89917	1.0	D	0.67548	0.952	T	0.50882	-0.8775	9	0.45353	T	0.12	-35.2202	11.1898	0.48679	0.0:0.0:0.7045:0.2955	.	143	Q12788	TBL3_HUMAN	R	143	.	ENSP00000331815:G143R	G	+	1	0	TBL3	1964812	1.000000	0.71417	0.943000	0.38184	0.307000	0.27823	6.648000	0.74359	2.301000	0.77427	0.561000	0.74099	GGG	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250615.3		+	ENST00000568546.1	Missense_Mutation	SNP	16 : 2024811 - 2024811 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	308	9
TBX15	6913	broad.mit.edu	37	1	119441695	119441695	+	Missense_Mutation	SNP	C	C	T	rs141002143	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:119441695C>T	ENST00000369429.3	-	7	989	c.980G>A	c.(979-981)cGc>cAc	p.R327H	TBX15_ENST00000207157.3_Missense_Mutation_p.R221H			Q96SF7	TBX15_HUMAN	T-box 15	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGTGAGTGTGCGCACAGGAGG	0.493		NA											C	4	0.0018	0.002	0.0028	2184	0.0035	0.9999	,	,	NA	0.0022	NA	NA	NA	0.0018	0.9762	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	HIS/ARG	18,4388	25.3+/-52.1	0,18,2185	150	130	137		662	5.7	1	1	dbSNP_134	137	0,8600		0,0,4300	yes	missense	TBX15	NM_152380.2	29	0,18,6485	TT,TC,CC	NA	0.0,0.4085,0.1384	probably-damaging	221/497	119441695	18,12988	2203	4300	6503	SO:0001583	missense			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607	6913	6913		T-boxes	11594	protein-coding gene	gene with protein product		604127	T-box 14	TBX14	NA	9693034	Standard	NM_152380	XM_005271162	NA	Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.980G>A	1.37:g.119441695C>T	ENSP00000358437:p.Arg327His	NA	Q08E76|Q5JT54|Q5T9S7	37		4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	33	5.284276	0.95517	0.004085	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;D	0.88664	-2.41;-2.34;-1.7	5.65	5.65	0.86999	.	0.129767	0.49305	D	0.000159	D	0.92678	0.7673	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.987;0.98	D	0.92398	0.5927	10	0.66056	D	0.02	.	20.073	0.97731	0.0:1.0:0.0:0.0	.	91;327	E9PCG3;Q96SF7	.;TBX15_HUMAN	H	91;221;327;22;21	ENSP00000207157:R221H;ENSP00000358437:R327H;ENSP00000398625:R22H	ENSP00000207157:R221H	R	-	2	0	TBX15	119243218	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.181000	0.77682	2.811000	0.96726	0.655000	0.94253	CGC	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000034351.1		-	ENST00000369429.3	Missense_Mutation	SNP	1 : 119441695 - 119441695 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	369	50
TENM3	55714	broad.mit.edu	37	4	183714508	183714508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:183714508G>A	ENST00000511685.1	+	26	6806	c.6683G>A	c.(6682-6684)cGt>cAt	p.R2228H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H					teneurin transmembrane protein 3	NA								p.R2228H(1)			NA						GTGATCTACCGTTATGACGGC	0.463		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9135	EXOME	NA	NA	0.0045	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)											78	80	79			NA	NA	4		NA											NA				183714508		1898	4121	6019	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6683G>A	4.37:g.183714508G>A	ENSP00000424226:p.Arg2228His	NA		37	CCDS47165.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.04	1.242130	0.22796	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86694	-2.16;-2.16	4.65	4.65	0.58169	.	.	.	.	.	D	0.93223	0.7841	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.91401	0.5143	9	0.15952	T	0.53	.	17.7429	0.88412	0.0:0.0:1.0:0.0	.	2228	Q9P273	TEN3_HUMAN	H	2228	ENSP00000424226:R2228H;ENSP00000385276:R2228H	ENSP00000385276:R2228H	R	+	2	0	ODZ3	183951502	1.000000	0.71417	0.900000	0.35374	0.648000	0.38561	7.767000	0.85331	2.417000	0.82017	0.563000	0.77884	CGT	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183714508 - 183714508 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	300	20
TIE1	7075	broad.mit.edu	37	1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	920	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A920V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGAATATGCCCCCTACGGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	urinary_tract(2)											280	295	290			NA	NA	1		NA											NA				43783580		2203	4300	6503	SO:0001583	missense			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	7075	7075	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	11809	protein-coding gene	gene with protein product		600222	tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1	TIE	NA	1312667	Standard	NM_005424	NM_005424	NA	Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2759C>T	1.37:g.43783580C>T	ENSP00000361554:p.Ala920Val	NA		37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505865	0.96371	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.68331	-0.32;-0.32	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001215	T	0.72350	0.3449	N	0.13198	0.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76130	-0.3072	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	875;565;920	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	920;323;203;565	ENSP00000361554:A920V;ENSP00000411728:A565V	ENSP00000361553:A323V	A	+	2	0	TIE1	43556167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.882000	0.98803	0.655000	0.94253	GCC	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019011.1		+	ENST00000372476.3	Missense_Mutation	SNP	1 : 43783580 - 43783580 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	1674	9
TMTC3	160418	broad.mit.edu	37	12	88568385	88568385	+	Splice_Site	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:88568385G>A	ENST00000266712.6	+	9	1421	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	401						integral to membrane	binding	p.V401I(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTAAACAGTGTATTTAAAAA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											78	79	79			NA	NA	12		NA											NA				88568385		2203	4298	6501	SO:0001630	splice_region_variant				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324	160418	160418		Tetratricopeptide (TTC) repeat domain containing	26899	protein-coding gene	gene with protein product					NA		Standard	NM_181783	NM_181783	NA	Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1200-1G>A	12.37:g.88568385G>A		NA	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439040	0.25900	.	.	ENSG00000139324	ENST00000266712	T	0.42131	0.98	5.71	4.83	0.62350	.	0.468547	0.24436	N	0.038556	T	0.28797	0.0714	L	0.27053	0.805	0.26494	N	0.974889	B	0.15930	0.015	B	0.20384	0.029	T	0.16188	-1.0411	10	0.22109	T	0.4	-12.395	9.9853	0.41839	0.2109:0.0:0.7891:0.0	.	401	Q6ZXV5-2	.	I	401	ENSP00000266712:V401I	ENSP00000266712:V401I	V	+	1	0	TMTC3	87092516	0.997000	0.39634	0.990000	0.47175	0.786000	0.44442	0.928000	0.28831	1.426000	0.47256	-0.136000	0.14681	GTA	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406421.1	Missense_Mutation	+	ENST00000266712.6	Splice_Site	SNP	12 : 88568385 - 88568385 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	370	101
TOP1	7150	broad.mit.edu	37	20	39750710	39750710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:39750710C>A	ENST00000361337.2	+	20	2360	c.2110C>A	c.(2110-2112)Caa>Aaa	p.Q704K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	704					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GCTGGAAGTTCAAGCCACAGA	0.478		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													92	89	90			NA	NA	20		NA											NA				39750710		2203	4300	6503	SO:0001583	missense				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	7150	7150	5.99.1.2		11986	protein-coding gene	gene with protein product		126420			NA		Standard		NM_003286	NA	Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.2110C>A	20.37:g.39750710C>A	ENSP00000354522:p.Gln704Lys	NA	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595991	0.66332	.	.	ENSG00000198900	ENST00000361337	T	0.47869	0.83	5.91	4.93	0.64822	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);	0.101665	0.64402	D	0.000001	T	0.50531	0.1621	M	0.67569	2.06	0.80722	D	1	B	0.20261	0.043	B	0.26969	0.075	T	0.50825	-0.8782	10	0.52906	T	0.07	-14.8363	16.5333	0.84366	0.131:0.869:0.0:0.0	.	704	P11387	TOP1_HUMAN	K	704	ENSP00000354522:Q704K	ENSP00000354522:Q704K	Q	+	1	0	TOP1	39184124	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.802000	0.62539	2.793000	0.96121	0.655000	0.94253	CAA	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080397.2		+	ENST00000361337.2	Missense_Mutation	SNP	20 : 39750710 - 39750710 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	604	17
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(1)	GRCh37	CM973401	TP53	M							154	112	126			NA	NA	17		NA											NA				7577532		2203	4300	6503	SO:0001583	missense	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.749C>T	17.37:g.7577532G>A	ENSP00000391127:p.Pro250Leu	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	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577532 - 7577532 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	237	74
VDAC2	7417	broad.mit.edu	37	10	76979095	76979095	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:76979095A>G	ENST00000332211.6	+	6	550	c.337A>G	c.(337-339)Acc>Gcc	p.T113A	VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.T113A|VDAC2_ENST00000313132.4_Missense_Mutation_p.T128A|VDAC2_ENST00000535553.1_Missense_Mutation_p.T74A	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	113						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ATTTGATACTACCTTCTCACC	0.239		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	10		NA											NA				76979095		2203	4299	6502	SO:0001583	missense			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637	7417	7417		Voltage-dependent anion channels	12672	protein-coding gene	gene with protein product		193245			NA	7517385, 10049775	Standard	NM_003375	NM_003375	NA	Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.337A>G	10.37:g.76979095A>G	ENSP00000361686:p.Thr113Ala	NA	Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	37	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842620	0.51057	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.67569	2.06	0.80722	D	1	B;B;B	0.28082	0.033;0.2;0.149	B;B;B	0.30029	0.11;0.098;0.063	T	0.32161	-0.9917	10	0.23891	T	0.37	.	15.1356	0.72562	1.0:0.0:0.0:0.0	.	74;128;113	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	A	113;113;113;113;74;128;113	ENSP00000298468:T113A;ENSP00000443092:T113A;ENSP00000344876:T113A;ENSP00000361686:T113A;ENSP00000445901:T74A;ENSP00000361635:T128A;ENSP00000401492:T113A	ENSP00000298468:T113A	T	+	1	0	VDAC2	76649101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.574000	0.82434	1.978000	0.57642	0.460000	0.39030	ACC	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048792.1		+	ENST00000332211.6	Missense_Mutation	SNP	10 : 76979095 - 76979095 G PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	541	114
VWA8	23078	broad.mit.edu	37	13	42273281	42273281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:42273281C>T	ENST00000379310.3	-	29	3558	c.3490G>A	c.(3490-3492)Gtt>Att	p.V1164I		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8	NA											NA						GGGTGCCAAACGCCATTGGCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	103	103			NA	NA	13		NA											NA				42273281		1927	4118	6045	SO:0001583	missense			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763	23078	23078			29071	protein-coding gene	gene with protein product			KIAA0564	KIAA0564	NA	9628581	Standard	NM_015058	NM_015058	NA	Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3490G>A	13.37:g.42273281C>T	ENSP00000368612:p.Val1164Ile	NA		37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156323	0.01686	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10099	2.91	5.39	-0.804	0.10882	.	0.649919	0.14640	N	0.307244	T	0.03871	0.0109	N	0.12746	0.255	0.24417	N	0.994636	B	0.11235	0.004	B	0.04013	0.001	T	0.44050	-0.9353	10	0.06891	T	0.86	.	4.1711	0.10331	0.0994:0.508:0.0933:0.2992	.	1164	A3KMH1	K0564_HUMAN	I	1068;1164	ENSP00000368612:V1164I	ENSP00000251030:V1068I	V	-	1	0	KIAA0564	41171281	0.010000	0.17322	0.091000	0.20842	0.071000	0.16799	0.061000	0.14366	-0.427000	0.07350	-1.128000	0.01989	GTT	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354828.2		-	ENST00000379310.3	Missense_Mutation	SNP	13 : 42273281 - 42273281 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	535	13
WASF3	10810	broad.mit.edu	37	13	27259854	27259854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:27259854C>T	ENST00000335327.5	+	10	1559	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	WASF3_ENST00000361042.4_Missense_Mutation_p.R458W	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	461					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCAGGAGCAGCGGGAGCAGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	95	101			NA	NA	13		NA											NA				27259854		2203	4300	6503	SO:0001583	missense			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970	10810	10810			12734	protein-coding gene	gene with protein product		605068			NA	10381382	Standard		NM_006646	NA	Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1381C>T	13.37:g.27259854C>T	ENSP00000335055:p.Arg461Trp	NA	O94974	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650714	0.87958	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.42900	0.96;0.96	5.75	5.75	0.90469	.	0.110713	0.64402	D	0.000004	T	0.61763	0.2373	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.91	T	0.58205	-0.7677	10	0.48119	T	0.1	-11.9041	19.9239	0.97097	0.0:1.0:0.0:0.0	.	458;461	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	W	458;461	ENSP00000354325:R458W;ENSP00000335055:R461W	ENSP00000335055:R461W	R	+	1	2	WASF3	26157854	1.000000	0.71417	0.984000	0.44739	0.961000	0.63080	5.562000	0.67346	2.716000	0.92895	0.561000	0.74099	CGG	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044258.1		+	ENST00000335327.5	Missense_Mutation	SNP	13 : 27259854 - 27259854 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	368	64
WIPF1	7456	broad.mit.edu	37	2	175436585	175436585	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:175436585G>A	ENST00000392547.2	-	5	1047	c.948C>T	c.(946-948)ccC>ccT	p.P316P	WIPF1_ENST00000272746.5_Silent_p.P316P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P316P|WIPF1_ENST00000359761.3_Silent_p.P316P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P316P|WIPF1_ENST00000392546.2_Silent_p.P316P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	316	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGCGGCCCGGGCCTGCTGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	2		NA											NA				175436585		2203	4300	6503	SO:0001819	synonymous_variant			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935	7456	7456			12736	protein-coding gene	gene with protein product		602357	Wiskott-Aldrich syndrome protein interacting protein	WASPIP	NA	9405671	Standard	NM_003387	NM_001077269	NA	Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.948C>T	2.37:g.175436585G>A		NA	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	37	CCDS2260.1																																																																																			WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255453.1		-	ENST00000392547.2	Silent	SNP	2 : 175436585 - 175436585 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	199	36
XXYLT1	152002	broad.mit.edu	37	3	194790821	194790821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:194790821G>A	ENST00000460582.1	-	0	246				XXYLT1_ENST00000355729.4_Missense_Mutation_p.R66C|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R63C|XXYLT1_ENST00000310380.6_Missense_Mutation_p.R269C|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R123C|XXYLT1_ENST00000437101.1_Missense_Mutation_p.R66C			Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	NA						integral to membrane	transferase activity, transferring glycosyl groups				NA						TTCTCATGGCGGAACTGCCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,3786		0,0,1893	20	24	23		805	5.8	1	3		23	1,7983		0,1,3991	no	missense	C3orf21	NM_152531.4	180	0,1,5884	AA,AG,GG	NA	0.0125,0.0,0.0085	probably-damaging	269/394	194790821	1,11769	1893	3992	5885	SO:0001623	5_prime_UTR_variant			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950	152002	152002		Glycosyltransferase family 8 domain containing	26639	protein-coding gene	gene with protein product		614552	chromosome 3 open reading frame 21	C3orf21	NA	22117070	Standard	NM_152531	NM_152531	NA	Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000460582.1:c.-500C>T	3.37:g.194790821G>A		NA	D3DNW5|Q8NAL3|Q8WV03|Q96ME0	37		.	.	.	.	.	.	.	.	.	.	G	33	5.225266	0.95173	0.0	1.25E-4	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.72953	-0.4135	10	0.59425	D	0.04	-15.37	19.0284	0.92944	0.0:0.0:1.0:0.0	.	269;66;63	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	C	269;66;66;123;63	ENSP00000309640:R269C;ENSP00000409865:R66C;ENSP00000347967:R66C;ENSP00000399422:R123C;ENSP00000349179:R63C	ENSP00000309640:R269C	R	-	1	0	C3orf21	196272110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.753000	0.98904	2.750000	0.94351	0.563000	0.77884	CGC	XXYLT1-012	PUTATIVE	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000342301.1		-	ENST00000460582.1	5'UTR	SNP	3 : 194790821 - 194790821 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	306	5
ZNF521	25925	broad.mit.edu	37	18	22806481	22806481	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:22806481C>T	ENST00000361524.3	-	4	1549	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	ZNF521_ENST00000584787.1_Silent_p.L247L|ZNF521_ENST00000538137.2_Silent_p.L467L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	467					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGAAACAATCAGACCTGGGT	0.463		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													89	88	88			NA	NA	18		NA											NA				22806481		2203	4300	6503	SO:0001819	synonymous_variant			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1401G>A	18.37:g.22806481C>T		NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1																																																																																			ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Silent	SNP	18 : 22806481 - 22806481 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	477	22
ZNF569	148266	broad.mit.edu	37	19	37903725	37903725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:37903725C>T	ENST00000316950.6	-	6	2392	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	ZNF569_ENST00000392150.2_Missense_Mutation_p.G453E|ZNF569_ENST00000392149.2_Missense_Mutation_p.G612E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGGCTTTTCCACATTTATT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	114	115			NA	NA	19		NA											NA				37903725		2203	4300	6503	SO:0001583	missense			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437	148266	148266		Zinc fingers, C2H2-type, -	24737	protein-coding gene	gene with protein product		613904			NA	12477932	Standard	NM_152484	NM_152484	NA	Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1835G>A	19.37:g.37903725C>T	ENSP00000325018:p.Gly612Glu	NA	A8K1S2|Q15925|Q96MQ2	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575704	0.65878	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.58210	0.35;0.35	4.1	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62109	0.2401	L	0.46819	1.47	0.44890	D	0.997908	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.63328	-0.6662	9	0.62326	D	0.03	.	11.1105	0.48230	0.0:0.9057:0.0:0.0943	.	453;612	Q17RR6;Q5MCW4	.;ZN569_HUMAN	E	612;268;453	ENSP00000325018:G612E;ENSP00000375993:G453E	ENSP00000325018:G612E	G	-	2	0	ZNF569	42595565	0.996000	0.38824	0.999000	0.59377	0.998000	0.95712	2.285000	0.43487	1.061000	0.40601	0.655000	0.94253	GGA	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109594.2		-	ENST00000316950.6	Missense_Mutation	SNP	19 : 37903725 - 37903725 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	774	192
ZNF613	79898	broad.mit.edu	37	19	52448407	52448407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:52448407G>A	ENST00000293471.6	+	6	1950	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.G388E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACTCACACTGGAGAGAAACCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	19		NA											NA				52448407		2203	4300	6503	SO:0001583	missense			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08					79898	79898		Zinc fingers, C2H2-type, -	25827	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024840	NM_001031721	NA	Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1271G>A	19.37:g.52448407G>A	ENSP00000293471:p.Gly424Glu	NA	Q96SS9	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114923	0.56505	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.25749	1.78;4.74	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002329	T	0.37732	0.1014	L	0.31476	0.935	0.31474	N	0.66797	D	0.89917	1.0	D	0.97110	1.0	T	0.43686	-0.9376	10	0.87932	D	0	.	14.0307	0.64613	0.0:0.0:1.0:0.0	.	424	Q6PF04	ZN613_HUMAN	E	424;388;98	ENSP00000293471:G424E;ENSP00000375671:G388E	ENSP00000293471:G424E	G	+	2	0	ZNF613	57140219	0.974000	0.33945	0.998000	0.56505	0.929000	0.56500	1.109000	0.31135	1.890000	0.54733	0.655000	0.94253	GGA	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461104.2		+	ENST00000293471.6	Missense_Mutation	SNP	19 : 52448407 - 52448407 A PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	357	9
ZNF773	374928	broad.mit.edu	37	19	58016113	58016113	+	Missense_Mutation	SNP	G	G	T	rs140869170		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:58016113G>T	ENST00000599847.1	+	2	264	c.122G>T	c.(121-123)cGc>cTc	p.R41L	ZNF773_ENST00000282292.4_Missense_Mutation_p.R41L|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Missense_Mutation_p.R40L|ZNF773_ENST00000598770.1_Missense_Mutation_p.R40L			Q6PK81	ZN773_HUMAN	zinc finger protein 773	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CTCCTCTACCGCAATGTGATG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	108	115			NA	NA	19		NA											NA				58016113		2203	4297	6500	SO:0001583	missense			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439	374928	374928		Zinc fingers, C2H2-type, -	30487	protein-coding gene	gene with protein product			zinc finger protein 419B	ZNF419B	NA	12477932	Standard	NM_198542	NM_198542	NA	Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000599847.1:c.122G>T	19.37:g.58016113G>T	ENSP00000468846:p.Arg41Leu	NA	Q96DL8	37		.	.	.	.	.	.	.	.	.	.	G	0.697	-0.792230	0.02884	.	.	ENSG00000152439	ENST00000332030;ENST00000282292	T	0.02709	4.19	1.39	-0.898	0.10550	Krueppel-associated box (4);	.	.	.	.	T	0.04861	0.0131	M	0.69523	2.12	0.09310	N	1	B;B	0.32573	0.376;0.1	B;B	0.37692	0.256;0.154	T	0.32955	-0.9887	9	0.45353	T	0.12	.	5.4787	0.16710	0.3572:0.0:0.6428:0.0	.	40;41	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	L	64;41	ENSP00000282292:R41L	ENSP00000282292:R41L	R	+	2	0	ZNF773	62707925	0.000000	0.05858	0.001000	0.08648	0.769000	0.43574	-0.343000	0.07791	-0.200000	0.10300	0.305000	0.20034	CGC	ZNF773-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000466474.1		+	ENST00000599847.1	Missense_Mutation	SNP	19 : 58016113 - 58016113 T PAAD-TCGA-IB-A7M4-Tumor-SM-5KWXO	615	116
