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
ABCA10	10349	broad.mit.edu	37	17	67183986	67183986	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:67183986C>A	ENST00000269081.4	-	20	3075	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	722					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTTCTTGTCACATGTATTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	145	147			NA	NA	17		NA											NA				67183986		2203	4300	6503	SO:0001819	synonymous_variant			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263	10349	10349		ATP binding cassette transporters / subfamily A	30	protein-coding gene	gene with protein product		612508			NA	12821155, 11435397	Standard	NM_080282	NM_080282	NA	Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2166G>T	17.37:g.67183986C>A		NA	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	37	CCDS11684.1																																																																																			ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379881.4		-	ENST00000269081.4	Silent	SNP	17 : 67183986 - 67183986 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	230	34
ABCA13	154664	broad.mit.edu	37	7	48315041	48315041	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:48315041G>A	ENST00000435803.1	+	17	5802	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1926					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGATATTACCGTTTGTCCCAC	0.373		NA											g	3	0.0014	0.002	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G		14,3646		0,14,1816	123	125	124		5778	-5.5	0	7		124	26,8146		0,26,4060	no	coding-synonymous	ABCA13	NM_152701.3		0,40,5876	AA,AG,GG	NA	0.3182,0.3825,0.3381		1926/5059	48315041	40,11792	1830	4086	5916	SO:0001819	synonymous_variant			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869	154664	154664		ATP binding cassette transporters / subfamily A	14638	protein-coding gene	gene with protein product		607807			NA	12697998	Standard	NM_152701	NM_152701	NA	Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5778G>A	7.37:g.48315041G>A		NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1																																																																																			ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Silent	SNP	7 : 48315041 - 48315041 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	603	108
ACAD9	28976	broad.mit.edu	37	3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	115			NA	NA	3		NA											NA				128625055		2203	4300	6503	SO:0001583	missense			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646	28976	28976		Mitochondrial respiratory chain complex assembly factors	21497	protein-coding gene	gene with protein product		611103	acyl-Coenzyme A dehydrogenase family, member 9		NA	12359260, 21057504, 20816094	Standard	NM_014049	NM_014049	NA	Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1241G>A	3.37:g.128625055G>A	ENSP00000312618:p.Arg414His	NA	D3DNB8|Q8WXX3	37	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491866	0.84962	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.97378	-4.36	5.66	4.77	0.60923	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99494	1.0951	10	0.87932	D	0	.	14.2991	0.66334	0.0:0.1497:0.8503:0.0	.	291;414	Q9H9W4;Q9H845	.;ACAD9_HUMAN	H	414;281	ENSP00000312618:R414H	ENSP00000312618:R414H	R	+	2	0	ACAD9	130107745	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.033000	0.93741	1.354000	0.45846	0.655000	0.94253	CGC	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358405.1		+	ENST00000308982.7	Missense_Mutation	SNP	3 : 128625055 - 128625055 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	582	7
ACOXL	55289	broad.mit.edu	37	2	111556628	111556628	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:111556628C>T	ENST00000389811.4	+	7	722	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ACOXL_ENST00000439055.1_Silent_p.N166N|ACOXL_ENST00000340561.4_Silent_p.N166N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	166					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGATGAAAACGGAAGCTTGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	165	139	148		498	-10.7	0.1	2		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACOXL	NM_001142807.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		166/581	111556628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093	55289	55289			25621	protein-coding gene	gene with protein product			acyl-Coenzyme A oxidase-like		NA		Standard	NM_018308	NM_001142807	NA	Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.498C>T	2.37:g.111556628C>T		NA	A2RRB7|B7WPB3|B7WPP7|Q53R27|Q53R31|Q53SC6|Q8TCE7	37		.	.	.	.	.	.	.	.	.	.	C	8.179	0.793474	0.16327	0.0	1.16E-4	ENSG00000153093	ENST00000422487	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.45662	D	0.998582	.	.	.	.	.	.	T	0.77075	-0.2722	5	0.87932	D	0	-22.6667	9.5339	0.39211	0.0906:0.5713:0.0924:0.2458	.	.	.	.	M	18	.	ENSP00000404255:T18M	T	+	2	0	ACOXL	111273099	0.078000	0.21339	0.094000	0.20943	0.932000	0.56968	-1.471000	0.02344	-2.880000	0.00319	-0.961000	0.02630	ACG	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000254024.2		+	ENST00000389811.4	Silent	SNP	2 : 111556628 - 111556628 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	552	85
ADAMTS16	170690	broad.mit.edu	37	5	5235183	5235183	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:5235183A>G	ENST00000274181.7	+	13	2045	c.1907A>G	c.(1906-1908)aAc>aGc	p.N636S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	636	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGCTCTGCAACAGTCAGAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	75			NA	NA	5		NA											NA				5235183		1942	4134	6076	SO:0001583	missense			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536	170690	170690		ADAM metallopeptidases with thrombospondin type 1 motif	17108	protein-coding gene	gene with protein product		607510	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16		NA	11867212	Standard	NM_139056	NM_139056	NA	Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1907A>G	5.37:g.5235183A>G	ENSP00000274181:p.Asn636Ser	NA	C6G490|Q8IVE2	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595341	0.66219	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05319	3.46	4.67	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.80422	2.495	0.58432	D	0.999993	P;P	0.50528	0.805;0.936	P;P	0.55713	0.492;0.782	T	0.00423	-1.1748	10	0.56958	D	0.05	.	6.7912	0.23701	0.7648:0.1522:0.083:0.0	.	636;636	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	636	ENSP00000274181:N636S	ENSP00000274181:N636S	N	+	2	0	ADAMTS16	5288183	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	4.860000	0.62961	0.243000	0.21327	0.533000	0.62120	AAC	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Missense_Mutation	SNP	5 : 5235183 - 5235183 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	506	47
AMOTL2	51421	broad.mit.edu	37	3	134090033	134090033	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:134090033G>A	ENST00000514516.1	-	2	595	c.417C>T	c.(415-417)ggC>ggT	p.G139G	AMOTL2_ENST00000513145.1_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G|AMOTL2_ENST00000422605.2_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	81										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGTTCTCACCGCCCTGGTGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	44	46			NA	NA	3		NA											NA				134090033		2203	4300	6503	SO:0001819	synonymous_variant			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019	51421	51421			17812	protein-coding gene	gene with protein product	Leman coiled-coil protein, angiomotin-like protein 2	614658			NA		Standard	NM_016201	NM_016201	NA	Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000514516.1:c.417C>T	3.37:g.134090033G>A		NA	A8K6F1|Q53EP1|Q96F99|Q9UKB4	37																																																																																				AMOTL2-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357274.2		-	ENST00000514516.1	Silent	SNP	3 : 134090033 - 134090033 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	257	4
ANO5	203859	broad.mit.edu	37	11	22281145	22281145	+	Silent	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:22281145A>G	ENST00000324559.8	+	15	1805	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	496						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTCATGGAAAGTGATGCAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	196	207			NA	NA	11		NA											NA				22281145		2203	4300	6503	SO:0001819	synonymous_variant			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714	203859	203859		Ion channels / Chloride channels : Calcium activated : Anoctamins	27337	protein-coding gene	gene with protein product		608662	transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive)	TMEM16E, LGMD2L	NA	15067359, 20096397, 24692353	Standard	NM_213599	NM_213599	NA	Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1488A>G	11.37:g.22281145A>G		NA		37	CCDS31444.1																																																																																			ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387615.1		+	ENST00000324559.8	Silent	SNP	11 : 22281145 - 22281145 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	364	40
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:157488191G>A	ENST00000346085.5	+	10	2898	c.2897G>A	c.(2896-2898)gGc>gAc	p.G966D	ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	206	209			NA	NA	6		NA											NA				157488191		2203	4296	6499	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.2897G>A	6.37:g.157488191G>A	ENSP00000344546:p.Gly966Asp	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901677	0.52227	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25250	4.67;4.65;4.75;4.74;4.44;2.16;1.81	5.64	4.72	0.59763	.	0.204799	0.51477	D	0.000092	T	0.10121	0.0248	N	0.22421	0.69	0.44668	D	0.997656	P;P;P;P	0.49783	0.928;0.791;0.763;0.879	B;B;B;P	0.44897	0.44;0.196;0.387;0.463	T	0.04140	-1.0974	10	0.28530	T	0.3	.	10.2908	0.43594	0.0:0.1331:0.6468:0.22	.	203;953;966;895	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	D	966;953;953;895;370;422;375;20	ENSP00000344546:G966D;ENSP00000055163:G953D;ENSP00000356116:G953D;ENSP00000275248:G895D;ENSP00000412835:G422D;ENSP00000313006:G375D;ENSP00000383596:G20D	ENSP00000275248:G895D	G	+	2	0	ARID1B	157529883	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	2.809000	0.47971	2.657000	0.90304	0.655000	0.94253	GGC	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157488191 - 157488191 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	919	9
ATP2B3	492	broad.mit.edu	37	X	152806983	152806983	+	Silent	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:152806983G>T	ENST00000370186.1	+	3	701	c.375G>T	c.(373-375)tcG>tcT	p.S125S	ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000349466.2_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	125					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCCTCTCGTTCTATGCGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	82	87			NA	NA	X		NA											NA				152806983		2203	4300	6503	SO:0001819	synonymous_variant			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	492	492	3.6.3.8	ATPases / P-type	816	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 3, cilia and flagella associated protein 39	300014	spinocerebellar ataxia, X-linked 1, cerebellar ataxia 2 (X-linked)	SCAX1, CLA2	NA	8187550, 22912398	Standard	NM_021949	NM_021949	NA	Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000370186.1:c.375G>T	X.37:g.152806983G>T		NA	B7WNR8|B7WNY5|Q12995|Q16858	37																																																																																				ATP2B3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000060956.1		+	ENST00000370186.1	Silent	SNP	X : 152806983 - 152806983 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	122	50
BRWD3	254065	broad.mit.edu	37	X	79932804	79932804	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:79932804G>A	ENST00000373275.4	-	41	4929	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1571										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTTCTCTTGATTCCTGTCC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	41	42			NA	NA	X		NA											NA				79932804		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288	254065	254065		WD repeat domain containing	17342	protein-coding gene	gene with protein product		300553			NA	15543602, 16094372	Standard	NM_153252	NM_153252	NA	Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4713C>T	X.37:g.79932804G>A		NA	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	37	CCDS14447.1																																																																																			BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057344.1		-	ENST00000373275.4	Silent	SNP	X : 79932804 - 79932804 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	98	37
BTN3A1	11119	broad.mit.edu	37	6	26413540	26413540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:26413540G>A	ENST00000289361.6	+	10	1530	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	388	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCGGCTGTGAGAGCTTCAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	149	146			NA	NA	6		NA											NA				26413540		2203	4300	6503	SO:0001583	missense			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950	NA	11119		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1138	protein-coding gene	gene with protein product		613593			NA	9149941	Standard		NM_007048	NA	Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1162G>A	6.37:g.26413540G>A	ENSP00000289361:p.Glu388Lys	NA	A2A278|A8K2C8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010049	0.35415	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15017	2.46;2.46	2.96	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	N	0.25992	0.78	0.19300	N	0.999971	B;B	0.18461	0.028;0.028	B;B	0.17722	0.019;0.012	T	0.42949	-0.9421	9	0.44086	T	0.13	.	6.0568	0.19816	0.3689:0.0:0.6311:0.0	.	336;388	E9PGB4;O00481	.;BT3A1_HUMAN	K	388;336	ENSP00000289361:E388K;ENSP00000406667:E336K	ENSP00000289361:E388K	E	+	1	0	BTN3A1	26521519	0.131000	0.22433	0.000000	0.03702	0.003000	0.03518	0.910000	0.28571	0.080000	0.16959	0.609000	0.83330	GAG	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040112.3		+	ENST00000289361.6	Missense_Mutation	SNP	6 : 26413540 - 26413540 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	652	74
CACNA1I	8911	broad.mit.edu	37	22	40015365	40015365	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40015365G>A	ENST00000402142.3	+	4	533	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R178H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	178					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAGCCATCCGCACCGTGCGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	115	115			NA	NA	22		NA											NA				40015365		2187	4282	6469	SO:0001583	missense			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346	8911	8911		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1396	protein-coding gene	gene with protein product		608230			NA	10454147, 16382099	Standard	NM_001003406	NM_021096	NA	Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.533G>A	22.37:g.40015365G>A	ENSP00000385019:p.Arg178His	NA	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	-	22.5	4.298716	0.81025	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.98594	4.275	0.50313	D	0.99986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	D	0.97964	1.0339	10	0.59425	D	0.04	.	17.3138	0.87217	0.0:0.0:1.0:0.0	.	178;178;178;178	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	178	ENSP00000385019:R178H;ENSP00000384093:R178H;ENSP00000383887:R178H;ENSP00000385680:R178H;ENSP00000337829:R178H;ENSP00000383028:R178H	ENSP00000337829:R178H	R	+	2	0	CACNA1I	38345311	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	8.996000	0.93539	2.405000	0.81733	0.556000	0.70494	CGC	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321290.1		+	ENST00000402142.3	Missense_Mutation	SNP	22 : 40015365 - 40015365 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	656	7
CASS4	57091	broad.mit.edu	37	20	55012332	55012332	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:55012332G>T	ENST00000360314.3	+	3	374	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CASS4_ENST00000434344.1_Missense_Mutation_p.G50V|CASS4_ENST00000371336.3_Missense_Mutation_p.G50V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	50	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAAGCGAGGGTTGGTGGAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	62			NA	NA	20		NA											NA				55012332		2203	4300	6503	SO:0001583	missense			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589	57091	57091		Cas scaffolding proteins	15878	protein-coding gene	gene with protein product	HEF-like protein, HEF1-Efs-p130Cas-like		chromosome 20 open reading frame 32	C20orf32	NA		Standard	NM_020356	NM_020356	NA	Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.149G>T	20.37:g.55012332G>T	ENSP00000353462:p.Gly50Val	NA	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274043	0.80580	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.74737	-0.87;-0.87;-0.87	5.71	5.71	0.89125	Src homology-3 domain (4);	0.051653	0.85682	D	0.000000	D	0.91586	0.7342	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.93821	0.7119	10	0.87932	D	0	-42.9102	19.8625	0.96789	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	V	50	ENSP00000353462:G50V;ENSP00000360387:G50V;ENSP00000410027:G50V	ENSP00000353462:G50V	G	+	2	0	CASS4	54445739	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.431000	0.80335	2.689000	0.91719	0.655000	0.94253	GGT	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079789.2		+	ENST00000360314.3	Missense_Mutation	SNP	20 : 55012332 - 55012332 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	520	48
CIC	23152	broad.mit.edu	37	19	42799006	42799006	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42799006A>G	ENST00000572681.2	+	21	7276	c.7208A>G	c.(7207-7209)tAt>tGt	p.Y2403C	CIC_ENST00000575354.2_Missense_Mutation_p.Y1497C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGCCCGCTATGCAGACATC	0.587		NA	Mis, F, S		oligodendroglioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19q13.2	23152	capicua homolog		O	0													65	67	66			NA	NA	19		NA											NA				42799006		2203	4300	6503	SO:0001583	missense			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432	23152	23152			14214	protein-coding gene	gene with protein product		612082	capicua (Drosophila) homolog, capicua homolog (Drosophila)		NA	12393275, 15981098	Standard		NM_015125	NA	Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000572681.2:c.7208A>G	19.37:g.42799006A>G	ENSP00000459719:p.Tyr2403Cys	NA	Q7LGI1|Q9UEG5|Q9Y6T1	37		.	.	.	.	.	.	.	.	.	.	A	16.55	3.155719	0.57259	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.42414	D	0.992613	D	0.69078	0.997	D	0.66847	0.947	T	0.58476	-0.7630	8	0.87932	D	0	-2.7629	9.5983	0.39587	0.8231:0.1768:0.0:0.0	.	1497	Q96RK0	CIC_HUMAN	C	1497	.	ENSP00000160740:Y1497C	Y	+	2	0	CIC	47490846	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	4.776000	0.62354	0.845000	0.35118	0.402000	0.26972	TAT	CIC-002	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438528.3		+	ENST00000572681.2	Missense_Mutation	SNP	19 : 42799006 - 42799006 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	614	60
COL5A3	50509	broad.mit.edu	37	19	10071228	10071228	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:10071228C>T	ENST00000264828.3	-	67	5182	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1699	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGTCCTTTCCGGAGCTGTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	101	98			NA	NA	19		NA											NA				10071228		2203	4300	6503	SO:0001819	synonymous_variant			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573	50509	50509		Collagens	14864	protein-coding gene	gene with protein product		120216			NA	10722718	Standard	NM_015719	NM_015719	NA	Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5097G>A	19.37:g.10071228C>T		NA	Q9NZQ6	37	CCDS12222.1																																																																																			COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315788.1		-	ENST00000264828.3	Silent	SNP	19 : 10071228 - 10071228 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	717	102
COMMD5	28991	broad.mit.edu	37	8	146076505	146076505	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:146076505G>A	ENST00000305103.3	-	2	471	c.219C>T	c.(217-219)gtC>gtT	p.V73V	COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000450361.2_Silent_p.V73V	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	73						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGTTGGCGCTGACCCCAAGAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	22	23			NA	NA	8		NA											NA				146076505		2202	4298	6500	SO:0001819	synonymous_variant			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619	28991	28991			17902	protein-coding gene	gene with protein product		608216			NA	15799966, 10918053	Standard	NM_014066	NM_014066	NA	Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.219C>T	8.37:g.146076505G>A		NA	D3DWN7|Q9NVN6|Q9UHX5	37	CCDS6436.1																																																																																			COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382962.1		-	ENST00000305103.3	Silent	SNP	8 : 146076505 - 146076505 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	233	36
CSMD2	114784	broad.mit.edu	37	1	34401481	34401481	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:34401481C>T	ENST00000373381.4	-	4	768	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	158	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTGTCACCGAGGTTGAAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	112	116			NA	NA	1		NA											NA				34401481		2203	4300	6503	SO:0001583	missense			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.592G>A	1.37:g.34401481C>T	ENSP00000362479:p.Gly198Ser	NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337261	0.81911	.	.	ENSG00000121904	ENST00000373381	T	0.72394	-0.65	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.85579	0.5729	M	0.87971	2.92	0.80722	D	1	B;D	0.89917	0.241;1.0	B;D	0.65010	0.094;0.931	D	0.88169	0.2863	10	0.72032	D	0.01	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	158;198	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	198	ENSP00000362479:G198S	ENSP00000241312:G158S	G	-	1	0	CSMD2	34174068	1.000000	0.71417	0.575000	0.28536	0.940000	0.58332	7.733000	0.84916	2.439000	0.82584	0.563000	0.77884	GGT	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000373381.4	Missense_Mutation	SNP	1 : 34401481 - 34401481 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	718	82
CTTNBP2	83992	broad.mit.edu	37	7	117432633	117432633	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:117432633G>A	ENST00000160373.3	-	4	708	c.617C>T	c.(616-618)aCg>aTg	p.T206M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	206										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTCATTCGTCTTTTTCTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	134	137			NA	NA	7		NA											NA				117432633		2203	4300	6503	SO:0001583	missense				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	83992	83992		Ankyrin repeat domain containing	15679	protein-coding gene	gene with protein product		609772	cortactin binding protein 2	CORTBP2, C7orf8	NA	11707066	Standard	NM_033427	XM_005250635	NA	Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.617C>T	7.37:g.117432633G>A	ENSP00000160373:p.Thr206Met	NA	O43389|Q7LG11|Q9C0A5	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396356	0.11638	.	.	ENSG00000077063	ENST00000160373	T	0.64260	-0.09	5.77	3.96	0.45880	.	0.457226	0.27139	N	0.020745	T	0.59945	0.2231	M	0.71581	2.175	0.25918	N	0.983145	B	0.19445	0.036	B	0.20384	0.029	T	0.56553	-0.7960	10	0.54805	T	0.06	-14.2498	10.3555	0.43960	0.0669:0.2536:0.6795:0.0	.	206	Q8WZ74	CTTB2_HUMAN	M	206	ENSP00000160373:T206M	ENSP00000160373:T206M	T	-	2	0	CTTNBP2	117219869	0.591000	0.26824	0.005000	0.12908	0.249000	0.25844	2.379000	0.44318	0.899000	0.36444	0.650000	0.86243	ACG	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059201.4		-	ENST00000160373.3	Missense_Mutation	SNP	7 : 117432633 - 117432633 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	364	54
DSG4	147409	broad.mit.edu	37	18	28991322	28991322	+	Missense_Mutation	SNP	G	G	A	rs145949758		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:28991322G>A	ENST00000359747.4	+	14	2352	c.2323G>A	c.(2323-2325)Gca>Aca	p.A775T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A756T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	756					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ctcaggggccgcaAGGAAGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	52	53			NA	NA	18		NA											NA				28991322		2203	4300	6503	SO:0001583	missense			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065	147409	147409		Cadherins / Major cadherins	21307	protein-coding gene	gene with protein product		607892			NA	12648213	Standard	NM_177986	NM_001134453	NA	Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000359747.4:c.2323G>A	18.37:g.28991322G>A	ENSP00000352785:p.Ala775Thr	NA	A2RUI1|Q6Y9L9|Q8IXV4	37	CCDS45845.1	.	.	.	.	.	.	.	.	.	.	G	4.141	0.024420	0.08054	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.87	-11.7	0.00046	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.09640	-1.0665	9	0.17369	T	0.5	.	0.3831	0.00398	0.351:0.2389:0.1437:0.2663	.	775;756	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	756;775	ENSP00000311859:A756T;ENSP00000352785:A775T	ENSP00000311859:A756T	A	+	1	0	DSG4	27245320	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.460000	0.06720	-2.897000	0.00313	-0.905000	0.02835	GCA	DSG4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447503.1		+	ENST00000359747.4	Missense_Mutation	SNP	18 : 28991322 - 28991322 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	288	5
DUPD1	338599	broad.mit.edu	37	10	76797813	76797813	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:76797813G>A	ENST00000338487.5	-	3	443	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	148	Substrate binding (Probable).|Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCGGCCCATGACGCAGTGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	52	54			NA	NA	10		NA											NA				76797813		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716	338599	338599		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	23481	protein-coding gene	gene with protein product					NA		Standard	XM_291741	NM_001003892	NA	Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.444C>T	10.37:g.76797813G>A		NA	B2RP93	37	CCDS31223.1																																																																																			DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048777.2		-	ENST00000338487.5	Silent	SNP	10 : 76797813 - 76797813 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	391	53
ELMO1	9844	broad.mit.edu	37	7	36917614	36917614	+	Splice_Site	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000396040.2_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	NA					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			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						GAGCTACTTACGTTTGTCCTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	80	87			NA	NA	7		NA											NA				36917614		2203	4300	6503	SO:0001630	splice_region_variant			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.1822+1G>A	7.37:g.36917614C>T		NA	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112821	0.94339	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELMO1	36884139	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.399000	0.79935	2.756000	0.94617	0.655000	0.94253	.	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219830.4	Intron	-	ENST00000310758.4	Splice_Site	SNP	7 : 36917614 - 36917614 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	172	18
EVC	2121	broad.mit.edu	37	4	5798842	5798842	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:5798842G>A	ENST00000264956.6	+	14	2164	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.T660T	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	660					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCACCCTGACGCAGATGCGGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	41	42			NA	NA	4		NA											NA				5798842		2202	4300	6502	SO:0001819	synonymous_variant			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840	2121	2121			3497	protein-coding gene	gene with protein product		604831			NA	10700184	Standard		NM_153717	NA	Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1980G>A	4.37:g.5798842G>A		NA		37	CCDS3383.1																																																																																			EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206859.1		+	ENST00000264956.6	Silent	SNP	4 : 5798842 - 5798842 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	330	47
FAM105A	54491	broad.mit.edu	37	5	14610393	14610393	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	347								p.N347N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGACCGAGAACGACCGCCACT	0.532		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - coding silent(1)	lung(1)											45	48	47			NA	NA	5		NA											NA				14610393		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569	54491	54491		OTU domain containing	25629	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019018	NM_019018	NA	Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.1041C>T	5.37:g.14610393C>T		NA	Q53H50|Q9H037	37	CCDS3884.1																																																																																			FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253710.1		+	ENST00000274217.3	Silent	SNP	5 : 14610393 - 14610393 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	498	43
FBXL20	84961	broad.mit.edu	37	17	37420484	37420484	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:37420484G>A	ENST00000264658.6	-	14	1407	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W|FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W|FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	383						cytoplasm		p.R383W(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGTTCTATCCGCTCAAGGCTA	0.512		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)											155	136	142			NA	NA	17		NA											NA				37420484		2203	4300	6503	SO:0001583	missense			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306	84961	84961		F-boxes / Leucine-rich repeats	24679	protein-coding gene	gene with protein product		609086			NA	12477932	Standard	NM_032875	NM_032875	NA	Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1147C>T	17.37:g.37420484G>A	ENSP00000264658:p.Arg383Trp	NA	A8K729|Q38J52	37	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856694	0.71834	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.12361	2.69;2.69	5.9	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.34800	-0.9814	10	0.72032	D	0.01	.	9.363	0.38208	0.0748:0.0:0.4229:0.5023	.	351;383	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	W	383;351	ENSP00000264658:R383W;ENSP00000377832:R351W	ENSP00000264658:R383W	R	-	1	2	FBXL20	34674010	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	3.486000	0.53215	0.362000	0.24319	-0.251000	0.11542	CGG	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444315.2		-	ENST00000264658.6	Missense_Mutation	SNP	17 : 37420484 - 37420484 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	608	7
FBXO3	26273	broad.mit.edu	37	11	33763529	33763529	+	Silent	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763529T>C	ENST00000526785.1	-	10	4753	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E	FBXO3_ENST00000531080.1_Silent_p.E134E|FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000265651.3_Silent_p.E447E			Q9UK99	FBX3_HUMAN	F-box protein 3	447	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCATCATCTTCATCTGATT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	161	177			NA	NA	11		NA											NA				33763529		2202	4298	6500	SO:0001819	synonymous_variant			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429	26273	26273		F-boxes /  other	13582	protein-coding gene	gene with protein product		609089	F-box only protein 3		NA	10531037	Standard	NM_012175	NM_033406	NA	Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000526785.1:c.1002A>G	11.37:g.33763529T>C		NA	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	37																																																																																				FBXO3-008	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000388820.1		-	ENST00000526785.1	Silent	SNP	11 : 33763529 - 33763529 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	251	31
FBXO3	26273	broad.mit.edu	37	11	33763531	33763531	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763531C>T	ENST00000526785.1	-	10	4751	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.E447K			Q9UK99	FBX3_HUMAN	F-box protein 3	447	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCATCATCTTCATCTGATTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	161	178			NA	NA	11		NA											NA				33763531		2202	4298	6500	SO:0001583	missense			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429	26273	26273		F-boxes /  other	13582	protein-coding gene	gene with protein product		609089	F-box only protein 3		NA	10531037	Standard	NM_012175	NM_033406	NA	Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000526785.1:c.1000G>A	11.37:g.33763531C>T	ENSP00000435680:p.Glu334Lys	NA	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	37		.	.	.	.	.	.	.	.	.	.	C	17.79	3.476081	0.63737	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.78	4.78	0.61160	.	0.143577	0.32372	N	0.006184	T	0.71609	0.3360	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.62184	0.899	T	0.76759	-0.2841	10	0.66056	D	0.02	-6.8063	15.9536	0.79861	0.0:1.0:0.0:0.0	.	447	Q9UK99	FBX3_HUMAN	K	334;447;134;134	ENSP00000435680:E334K;ENSP00000265651:E447K;ENSP00000435165:E134K;ENSP00000434001:E134K	ENSP00000265651:E447K	E	-	1	0	FBXO3	33720107	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	4.196000	0.58407	2.339000	0.79563	0.561000	0.74099	GAA	FBXO3-008	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000388820.1		-	ENST00000526785.1	Missense_Mutation	SNP	11 : 33763531 - 33763531 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	245	30
FLYWCH1	84256	broad.mit.edu	37	16	2979735	2979735	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:2979735G>A	ENST00000253928.9	+	3	454	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	17						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						TGTGAAGGCCGGCCAGGAGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	44	41			NA	NA	16		NA											NA				2979735		2198	4299	6497	SO:0001583	missense			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122	84256	84256		Zinc fingers	25404	protein-coding gene	gene with protein product					NA	11230166, 10997877	Standard	NM_032296	XM_006720959	NA	Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.49G>A	16.37:g.2979735G>A	ENSP00000253928:p.Gly17Ser	NA	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	37		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329821	0.24167	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.01	2.04	0.26737	.	.	.	.	.	T	0.15609	0.0376	N	0.19112	0.55	0.24293	N	0.995159	B;P	0.39060	0.105;0.657	B;B	0.32677	0.018;0.15	T	0.10042	-1.0647	8	0.38643	T	0.18	.	6.03	0.19675	0.1435:0.0:0.8565:0.0	.	17;17	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	S	17	.	ENSP00000253928:G17S	G	+	1	0	FLYWCH1	2919736	0.537000	0.26386	0.679000	0.29978	0.109000	0.19521	0.577000	0.23758	0.844000	0.35094	0.456000	0.33151	GGC	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000436479.1		+	ENST00000253928.9	Missense_Mutation	SNP	16 : 2979735 - 2979735 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	124	4
GABARAPL3	23766	broad.mit.edu	37	15	90892199	90892199	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:90892199G>T	ENST00000412799.2	-	1	470	c.231C>A	c.(229-231)ttC>ttA	p.F77L						GABA(A) receptors associated protein like 3, pseudogene	NA											NA						TGACAAAGAAGAATAAGGCGT	0.483		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:0001583	missense			AF180519		15q26.1	2014-02-12	2010-10-13		ENSG00000238244	ENSG00000238244	23766	23766			4069	pseudogene	pseudogene			GABA(A) receptors associated protein like 3, GABA(A) receptors associated protein like 3 (pseudogene)		NA	11414770	Standard	NR_028287	NR_028287	NA	Approved	ATG8D	uc010uqf.2	Q9BY60	OTTHUMG00000177213	ENST00000412799.2:c.231C>A	15.37:g.90892199G>T	ENSP00000394008:p.Phe77Leu	NA		37		.	.	.	.	.	.	.	.	.	.	G	16.36	3.102021	0.56183	.	.	ENSG00000238244	ENST00000412799	T	0.58652	0.32	1.11	-0.897	0.10553	.	.	.	.	.	T	0.50820	0.1638	.	.	.	0.27214	N	0.95983	.	.	.	.	.	.	T	0.51568	-0.8689	6	0.87932	D	0	.	4.632	0.12506	0.4812:0.0:0.5188:0.0	.	.	.	.	L	77	ENSP00000394008:F77L	ENSP00000394008:F77L	F	-	3	2	GABARAPL3	88693203	1.000000	0.71417	0.721000	0.30653	0.910000	0.53928	2.279000	0.43435	-0.210000	0.10140	-0.373000	0.07131	TTC	GABARAPL3-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			-	ENST00000412799.2	Missense_Mutation	SNP	15 : 90892199 - 90892199 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	200	15
GABRB1	2560	broad.mit.edu	37	4	47163392	47163392	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:47163392T>C	ENST00000295454.3	+	4	659	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	123					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGACACCTACTTTCTGAATGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	155	157			NA	NA	4		NA											NA				47163392		2203	4300	6503	SO:0001583	missense				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288	2560	2560		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4081	protein-coding gene	gene with protein product	GABA(A) receptor, beta 1	137190			NA		Standard		NM_000812	NA	Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.367T>C	4.37:g.47163392T>C	ENSP00000295454:p.Phe123Leu	NA	B2R6U7|Q16166|Q8TBK3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740563	0.89573	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.73363	-0.74;-0.74;-0.74	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.86163	0.5867	M	0.82193	2.58	0.58432	D	0.999997	D;D	0.62365	0.991;0.979	P;D	0.74023	0.86;0.982	D	0.87603	0.2498	10	0.54805	T	0.06	-13.1774	14.0523	0.64745	0.0:0.0:0.0:1.0	.	53;123	F5GXV5;P18505	.;GBRB1_HUMAN	L	90;123;53	ENSP00000426753:F90L;ENSP00000295454:F123L;ENSP00000440330:F53L	ENSP00000295454:F123L	F	+	1	0	GABRB1	46858149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.109000	0.64355	0.528000	0.53228	TTT	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216896.1		+	ENST00000295454.3	Missense_Mutation	SNP	4 : 47163392 - 47163392 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	674	81
GALNT1	2589	broad.mit.edu	37	18	33289706	33289706	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:33289706G>A	ENST00000269195.5	+	11	1755	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	551	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGGCTTCTTCGAAACGTCACC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	63	60	61		1652	5.6	1	18		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT1	NM_020474.3	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	551/560	33289706	1,13005	2203	4300	6503	SO:0001583	missense				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2589	2589	2.4.1.41	Glycosyltransferase family 2 domain containing	4123	protein-coding gene	gene with protein product	protein-UDP acetylgalactosaminyltransferase 1, polypeptide GalNAc transferase 1	602273	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)		NA	7592619, 12199709	Standard	NM_020474	NM_020474	NA	Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1652G>A	18.37:g.33289706G>A	ENSP00000269195:p.Arg551Gln	NA	Q86TJ7|Q9UM86	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767083	0.49574	0.0	1.16E-4	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.78003	-1.14;-1.14	5.59	5.59	0.84812	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	N	0.12182	0.205	0.80722	D	1	B	0.18166	0.026	B	0.06405	0.002	T	0.59558	-0.7432	10	0.41790	T	0.15	.	17.0846	0.86608	0.0:0.0:1.0:0.0	.	551	Q10472	GALT1_HUMAN	Q	551;551;491	ENSP00000269195:R551Q;ENSP00000440910:R491Q	ENSP00000269195:R551Q	R	+	2	0	GALNT1	31543704	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.556000	0.98127	2.622000	0.88805	0.637000	0.83480	CGA	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255771.2		+	ENST00000269195.5	Missense_Mutation	SNP	18 : 33289706 - 33289706 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	204	34
GIF	2694	broad.mit.edu	37	11	59599213	59599213	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:59599213G>A	ENST00000257248.2	-	8	1177	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	GIF_ENST00000541311.1_Missense_Mutation_p.A352V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	377					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.A377V(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AACATTTTCCGCGATATTGTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(53;1139 1245 16872 38474 42853)							NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	122	110	114		1130	4.4	1	11		114	2,8588	2.2+/-6.3	0,2,4293	no	missense	GIF	NM_005142.2	64	0,3,6493	AA,AG,GG	NA	0.0233,0.0227,0.0231	probably-damaging	377/418	59599213	3,12989	2201	4295	6496	SO:0001583	missense			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812	2694	2694			4268	protein-coding gene	gene with protein product		609342			NA	2071148	Standard	NM_005142	NM_005142	NA	Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1130C>T	11.37:g.59599213G>A	ENSP00000257248:p.Ala377Val	NA	B2RAN8|B4DVZ1	37	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111534	0.20714	2.27E-4	2.33E-4	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.42131	1.09;0.98	5.41	4.41	0.53225	.	0.412532	0.22845	N	0.054935	T	0.28234	0.0697	L	0.53249	1.67	0.20821	N	0.999847	P	0.43909	0.821	B	0.17098	0.017	T	0.35076	-0.9803	10	0.25751	T	0.34	-10.6094	12.1115	0.53842	0.0:0.0:0.8172:0.1828	.	377	P27352	IF_HUMAN	V	377;352	ENSP00000257248:A377V;ENSP00000440427:A352V	ENSP00000257248:A377V	A	-	2	0	GIF	59355789	0.563000	0.26594	0.980000	0.43619	0.764000	0.43329	1.685000	0.37659	2.532000	0.85374	0.655000	0.94253	GCG	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394497.1		-	ENST00000257248.2	Missense_Mutation	SNP	11 : 59599213 - 59599213 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	423	45
GJC3	349149	broad.mit.edu	37	7	99521174	99521174	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:99521174A>T	ENST00000312891.2	-	2	833	c.834T>A	c.(832-834)gaT>gaA	p.D278E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	278						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					caactcaggcatctctgggtc	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	112	115			NA	NA	7		NA											NA				99521174		2203	4300	6503	SO:0001583	missense			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402	349149	349149		Ion channels / Gap junction proteins (connexins)	17495	protein-coding gene	gene with protein product	connexin 30.2	611925	gap junction protein, epsilon 1, 29kDa	GJE1	NA		Standard	NM_181538	NM_181538	NA	Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.834T>A	7.37:g.99521174A>T	ENSP00000325775:p.Asp278Glu	NA	A4D296|Q86XI9	37	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409331	0.42715	.	.	ENSG00000176402	ENST00000312891	D	0.97850	-4.57	0.235	-0.47	0.12131	.	.	.	.	.	D	0.91928	0.7444	N	0.08118	0	0.19575	N	0.999967	P	0.38711	0.643	B	0.43360	0.417	D	0.87092	0.2173	8	0.21540	T	0.41	.	.	.	.	.	278	Q8NFK1	CXG3_HUMAN	E	278	ENSP00000325775:D278E	ENSP00000325775:D278E	D	-	3	2	GJC3	99359110	0.157000	0.22836	0.581000	0.28614	0.590000	0.36582	-0.593000	0.05740	-0.738000	0.04817	-0.736000	0.03550	GAT	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345052.1		-	ENST00000312891.2	Missense_Mutation	SNP	7 : 99521174 - 99521174 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	368	44
GPD2	2820	broad.mit.edu	37	2	157435503	157435503	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:157435503G>T	ENST00000310454.6	+	14	2242	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	624	EF-hand 1.				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACTGCCTTCAGACATTGACAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	118			NA	NA	2		NA											NA				157435503		2203	4300	6503	SO:0001583	missense				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	2820	2820	1.1.1.8	EF-hand domain containing	4456	protein-coding gene	gene with protein product		138430			NA		Standard		NM_001083112	NA	Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1870G>T	2.37:g.157435503G>T	ENSP00000308610:p.Asp624Tyr	NA	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669779	0.88348	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.79	5.79	0.91817	EF-hand-like domain (1);	0.042575	0.85682	D	0.000000	T	0.70876	0.3274	M	0.68593	2.085	0.80722	D	1	P	0.40398	0.716	P	0.45946	0.498	T	0.73212	-0.4054	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	624	P43304	GPDM_HUMAN	Y	624;397;624;624	ENSP00000308610:D624Y;ENSP00000386484:D397Y;ENSP00000409708:D624Y;ENSP00000386425:D624Y	ENSP00000308610:D624Y	D	+	1	0	GPD2	157143749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.845000	0.99498	2.732000	0.93576	0.585000	0.79938	GAC	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254910.3		+	ENST00000310454.6	Missense_Mutation	SNP	2 : 157435503 - 157435503 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	486	38
HIVEP1	3096	broad.mit.edu	37	6	12121002	12121002	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:12121002T>C	ENST00000379388.2	+	4	1306	c.974T>C	c.(973-975)gTt>gCt	p.V325A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	325					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAACAGGTTTATAATATA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	6		NA											NA				12121002		1937	4138	6075	SO:0001583	missense			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951	3096	3096		Zinc fingers, C2H2-type	4920	protein-coding gene	gene with protein product		194540	human immunodeficiency virus type I enhancer-binding protein 1, zinc finger protein 40	ZNF40	NA	2037300	Standard	NM_002114	XR_241895	NA	Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.974T>C	6.37:g.12121002T>C	ENSP00000368698:p.Val325Ala	NA	B2RTU3|Q14122|Q5MPB1|Q5VW60	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762438	0.31228	.	.	ENSG00000095951	ENST00000379388	T	0.08370	3.1	5.69	5.69	0.88448	.	0.511841	0.14674	N	0.305158	T	0.03434	0.0099	L	0.31926	0.97	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.41893	-0.9483	9	.	.	.	-8.7034	15.942	0.79763	0.0:0.0:0.0:1.0	.	325	P15822	ZEP1_HUMAN	A	325	ENSP00000368698:V325A	.	V	+	2	0	HIVEP1	12228988	0.950000	0.32346	0.071000	0.20095	0.594000	0.36715	2.109000	0.41863	2.162000	0.67917	0.533000	0.62120	GTT	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039870.2		+	ENST00000379388.2	Missense_Mutation	SNP	6 : 12121002 - 12121002 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	651	100
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											137	127	131			NA	NA	4		NA											NA				88732603		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559	3381	3381			5341	protein-coding gene	gene with protein product	bone sialoprotein, bone sialoprotein II	147563			NA	8406493	Standard		NM_004967	NA	Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>T	4.37:g.88732603C>T		NA		37	CCDS3624.1																																																																																			IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253050.2		+	ENST00000226284.5	Silent	SNP	4 : 88732603 - 88732603 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	127	19
IGSF22	283284	broad.mit.edu	37	11	18736985	18736985	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:18736985C>G	ENST00000513874.1	-	11	1664	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	509										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTACCCTCCACAGTGACGATG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	116	116			NA	NA	11		NA											NA				18736985		2152	4249	6401	SO:0001583	missense			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057	283284	283284		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	26750	protein-coding gene	gene with protein product					NA		Standard	NM_173588	NM_173588	NA	Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1525G>C	11.37:g.18736985C>G	ENSP00000421191:p.Val509Leu	NA	A6NNA0	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678902	0.03378	.	.	ENSG00000179057	ENST00000513874	T	0.13307	2.6	4.92	2.03	0.26663	.	0.203922	0.24126	N	0.041315	T	0.11110	0.0271	L	0.50333	1.59	0.19945	N	0.999945	B	0.34015	0.435	B	0.24974	0.057	T	0.14615	-1.0466	10	0.62326	D	0.03	.	8.4726	0.32995	0.0:0.7586:0.0:0.2414	.	509	D6RGV7	.	L	509	ENSP00000421191:V509L	ENSP00000322422:V509L	V	-	1	0	IGSF22	18693561	0.998000	0.40836	0.291000	0.24904	0.028000	0.11728	2.788000	0.47806	0.143000	0.18926	0.555000	0.69702	GTG	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360850.2		-	ENST00000513874.1	Missense_Mutation	SNP	11 : 18736985 - 18736985 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	633	82
IL17RE	132014	broad.mit.edu	37	3	9956176	9956176	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:9956176C>T	ENST00000454190.2	+	14	1399	c.1314C>T	c.(1312-1314)agC>agT	p.S438S	IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000421412.1_Intron|IL17RE_ENST00000295980.3_Intron	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	0						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTTCACTCAGCTCCCCGGGAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	3		NA											NA				9956176		692	1591	2283	SO:0001819	synonymous_variant			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701	132014	132014		Interleukins and interleukin receptors	18439	protein-coding gene	gene with protein product		614995			NA		Standard	NM_153480	NM_153480	NA	Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000454190.2:c.1314C>T	3.37:g.9956176C>T		NA	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	37	CCDS54552.1																																																																																			IL17RE-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339170.1		+	ENST00000454190.2	Silent	SNP	3 : 9956176 - 9956176 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	639	164
INTS3	65123	broad.mit.edu	37	1	153723618	153723618	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:153723618C>T	ENST00000318967.2	+	7	1200	c.632C>T	c.(631-633)aCg>aTg	p.T211M	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000456435.1_Missense_Mutation_p.T5M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	212					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGTTTACACGTACCTCCGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	109	120			NA	NA	1		NA											NA				153723618		2203	4300	6503	SO:0001583	missense			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624	65123	65123			26153	protein-coding gene	gene with protein product	sensor of single-strand DNA complex subunit A	611347	chromosome 1 open reading frame 60	C1orf60	NA	16239144	Standard	NM_023015	NM_023015	NA	Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.632C>T	1.37:g.153723618C>T	ENSP00000318641:p.Thr211Met	NA	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844025	0.91197	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.994	T	0.79783	-0.1658	9	0.87932	D	0	.	15.7443	0.77926	0.0:1.0:0.0:0.0	.	5;212;211	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	M	211;5;211;5	.	ENSP00000318641:T211M	T	+	2	0	INTS3	151990242	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.039000	0.76544	2.570000	0.86706	0.555000	0.69702	ACG	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090045.2		+	ENST00000318967.2	Missense_Mutation	SNP	1 : 153723618 - 153723618 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	177	14
ITPR3	3710	broad.mit.edu	37	6	33659689	33659689	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33659689G>A	ENST00000374316.5	+	55	8502	c.7442G>A	c.(7441-7443)cGc>cAc	p.R2481H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2481					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACATTCTCCGCAAGCCCTCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	170	177			NA	NA	6		NA											NA				33659689		2203	4300	6503	SO:0001583	missense			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	3710	3710		Ion channels / Inositol triphosphate receptors	6182	protein-coding gene	gene with protein product		147267	inositol 1,4,5-triphosphate receptor, type 3		NA	8081734, 8288584	Standard	NM_002224	NM_002224	NA	Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7442G>A	6.37:g.33659689G>A	ENSP00000363435:p.Arg2481His	NA	Q14649|Q5TAQ2	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316045	0.95655	.	.	ENSG00000096433	ENST00000374316	D	0.92595	-3.07	4.68	4.68	0.58851	Ion transport (1);	0.216428	0.47093	D	0.000255	D	0.96147	0.8744	M	0.86651	2.83	0.80722	D	1	D;D	0.71674	0.998;0.983	D;P	0.68192	0.956;0.768	D	0.96515	0.9381	10	0.87932	D	0	-33.0666	18.2265	0.89918	0.0:0.0:1.0:0.0	.	2481;2151	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2481	ENSP00000363435:R2481H	ENSP00000363435:R2481H	R	+	2	0	ITPR3	33767667	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.650000	0.98490	2.615000	0.88500	0.555000	0.69702	CGC	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040204.2		+	ENST00000374316.5	Missense_Mutation	SNP	6 : 33659689 - 33659689 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	856	7
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	636	8
KCNN4	3783	broad.mit.edu	37	19	44280710	44280710	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:44280710G>C	ENST00000262888.3	-	2	633	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	80					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCTTTGGCATGAAAGGCCACG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	71	75			NA	NA	19		NA											NA				44280710		2203	4300	6503	SO:0001583	missense			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783	3783	3783		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6293	protein-coding gene	gene with protein product		602754			NA	9380751, 9407042, 16382103	Standard	NM_002250	NM_002250	NA	Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.238C>G	19.37:g.44280710G>C	ENSP00000262888:p.His80Asp	NA	Q53XR4	37	CCDS12630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400039|3.400039	0.62177|0.62177	.|.	.|.	ENSG00000104783|ENSG00000104783	ENST00000262888|ENST00000407385	D|.	0.99907|.	-7.79|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Potassium channel, calcium-activated, SK, conserved region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72269|.	0.3439|.	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.61697|.	0.99|.	P|.	0.62089|.	0.898|.	T|.	0.75969|.	-0.3130|.	10|.	0.87932|0.62326	D|D	0|0.03	-18.4681|-18.4681	11.8767|11.8767	0.52552|0.52552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80|.	O15554|.	KCNN4_HUMAN|.	D|X	80|18	ENSP00000262888:H80D|.	ENSP00000262888:H80D|ENSP00000384427:S18X	H|S	-|-	1|2	0|0	KCNN4|KCNN4	48972550|48972550	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.782000|0.782000	0.44232|0.44232	8.720000|8.720000	0.91442|0.91442	1.711000|1.711000	0.51337|0.51337	0.549000|0.549000	0.68633|0.68633	CAT|TCA	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463598.1		-	ENST00000262888.3	Missense_Mutation	SNP	19 : 44280710 - 44280710 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	298	34
KCNQ3	3786	broad.mit.edu	37	8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133142050G>A	ENST00000388996.4	-	15	2498	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTGGTTCCGGGGGGCCTGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Insertion - Frameshift(1)	lung(1)											89	79	82			NA	NA	8		NA											NA				133142050		2203	4300	6503	SO:0001583	missense			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156	3786	3786		Potassium channels, Voltage-gated ion channels / Potassium channels	6297	protein-coding gene	gene with protein product		602232		EBN2	NA	9425900, 16382104	Standard	NM_004519	NM_004519	NA	Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2078C>T	8.37:g.133142050G>A	ENSP00000373648:p.Pro693Leu	NA		37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189602	0.21954	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98901	-5.21;-5.17;-5.22	5.49	3.51	0.40186	.	0.504521	0.23192	N	0.050897	D	0.91872	0.7427	N	0.08118	0	0.47737	D	0.999504	P;B	0.35328	0.495;0.178	B;B	0.17722	0.019;0.012	D	0.88843	0.3314	10	0.37606	T	0.19	-9.8678	3.0642	0.06209	0.0918:0.1206:0.4274:0.3601	.	681;693	E7ET42;O43525	.;KCNQ3_HUMAN	L	693;573;681;670;572	ENSP00000373648:P693L;ENSP00000429799:P573L;ENSP00000428790:P681L	ENSP00000373648:P693L	P	-	2	0	KCNQ3	133211232	0.989000	0.36119	0.712000	0.30502	0.718000	0.41266	2.135000	0.42112	1.330000	0.45394	0.549000	0.68633	CCG	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268621.2		-	ENST00000388996.4	Missense_Mutation	SNP	8 : 133142050 - 133142050 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	616	44
KCNQ3	3786	broad.mit.edu	37	8	133153411	133153411	+	Missense_Mutation	SNP	C	C	T	rs141821338		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133153411C>T	ENST00000388996.4	-	10	1850	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	477					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R477H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCTTTCATGCGGAAGGCCGT	0.473		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)											119	124	122			NA	NA	8		NA											NA				133153411		2203	4300	6503	SO:0001583	missense			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156	3786	3786		Potassium channels, Voltage-gated ion channels / Potassium channels	6297	protein-coding gene	gene with protein product		602232		EBN2	NA	9425900, 16382104	Standard	NM_004519	NM_004519	NA	Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1430G>A	8.37:g.133153411C>T	ENSP00000373648:p.Arg477His	NA		37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011674	0.93346	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99735	-6.58;-6.58;-6.58	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.118141	0.56097	D	0.000027	D	0.99600	0.9855	M	0.64170	1.965	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-16.6136	18.6978	0.91607	0.0:1.0:0.0:0.0	.	477;477	E7ET42;O43525	.;KCNQ3_HUMAN	H	477;357;477;466;356	ENSP00000373648:R477H;ENSP00000429799:R357H;ENSP00000428790:R477H	ENSP00000373648:R477H	R	-	2	0	KCNQ3	133222593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.652000	0.90054	0.655000	0.94253	CGC	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268621.2		-	ENST00000388996.4	Missense_Mutation	SNP	8 : 133153411 - 133153411 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	696	70
KIAA0922	23240	broad.mit.edu	37	4	154542991	154542991	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409663.3	+	28	3898	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1282						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCTGCCCAGAGAGAGGCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	101			NA	NA	4		NA											NA				154542991		2203	4300	6503	SO:0001583	missense			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210	23240	23240			29146	protein-coding gene	gene with protein product					NA	10231032, 11230166	Standard	NM_015196	NM_015196	NA	Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3846G>T	4.37:g.154542991G>T	ENSP00000386574:p.Gln1282His	NA	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431059	0.25726	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.42;2.15;2.42;2.15	5.16	3.08	0.35506	.	0.507289	0.20653	N	0.088171	T	0.28962	0.0719	L	0.43152	1.355	0.24200	N	0.995515	D;P;P	0.71674	0.998;0.925;0.877	P;P;P	0.62560	0.904;0.667;0.467	T	0.04053	-1.0981	10	0.31617	T	0.26	-3.8639	7.293	0.26376	0.1656:0.0:0.6948:0.1396	.	1199;1283;1282	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	1282;1199;1283;1060	ENSP00000386574:Q1282H;ENSP00000409663:Q1199H;ENSP00000386787:Q1283H;ENSP00000240487:Q1060H	ENSP00000240487:Q1060H	Q	+	3	2	KIAA0922	154762441	1.000000	0.71417	0.947000	0.38551	0.251000	0.25915	1.834000	0.39171	1.173000	0.42796	0.655000	0.94253	CAG	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330370.1		+	ENST00000409663.3	Missense_Mutation	SNP	4 : 154542991 - 154542991 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	206	24
KIF26B	55083	broad.mit.edu	37	1	245318761	245318761	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:245318761C>T	ENST00000407071.2	+	1	475	c.35C>T	c.(34-36)gCg>gTg	p.A12V		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	12					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)			GAGAGGCTTGCGGTCTCCACC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	62	59			NA	NA	1		NA											NA				245318761		1888	4115	6003	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	ENST00000407071.2:c.35C>T	1.37:g.245318761C>T	ENSP00000385545:p.Ala12Val	NA	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119533	0.94385	.	.	ENSG00000162849	ENST00000407071	T	0.78481	-1.18	5.17	5.17	0.71159	.	.	.	.	.	T	0.81351	0.4804	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.84531	0.0633	9	0.72032	D	0.01	.	18.6542	0.91445	0.0:1.0:0.0:0.0	.	12	Q2KJY2	KI26B_HUMAN	V	12	ENSP00000385545:A12V	ENSP00000385545:A12V	A	+	2	0	KIF26B	243385384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.868000	0.56055	2.395000	0.81488	0.561000	0.74099	GCG	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381037.1		+	ENST00000407071.2	Missense_Mutation	SNP	1 : 245318761 - 245318761 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	121	22
KIFC1	3833	broad.mit.edu	37	6	33374225	33374225	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33374225T>C	ENST00000428849.2	+	8	2239	c.1789T>C	c.(1789-1791)Tcc>Ccc	p.S597P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	597					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGCAGCCTGTCCACGCTGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	42	41			NA	NA	6		NA											NA				33374225		2203	4300	6503	SO:0001583	missense			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649	3833	3833		Kinesins	6389	protein-coding gene	gene with protein product		603763	kinesin-like 2	KNSL2	NA	8276466	Standard	NM_002263	NM_002263	NA	Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1789T>C	6.37:g.33374225T>C	ENSP00000393963:p.Ser597Pro	NA	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	37	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.145930	0.77888	.	.	ENSG00000237649	ENST00000428849	T	0.76839	-1.05	5.22	5.22	0.72569	Kinesin, motor domain (3);	0.057178	0.64402	D	0.000001	D	0.90133	0.6917	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92850	0.6296	10	0.87932	D	0	-1.8945	13.1064	0.59249	0.0:0.0:0.0:1.0	.	589;597	B4E063;Q9BW19	.;KIFC1_HUMAN	P	597	ENSP00000393963:S597P	ENSP00000393963:S597P	S	+	1	0	KIFC1	33482203	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.048000	0.49862	2.189000	0.69895	0.456000	0.33151	TCC	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076417.1		+	ENST00000428849.2	Missense_Mutation	SNP	6 : 33374225 - 33374225 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	380	50
KLHL3	26249	broad.mit.edu	37	5	136997650	136997650	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:136997650A>G	ENST00000508657.1	-	7	1325	c.611T>C	c.(610-612)aTg>aCg	p.M204T	KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000309755.4_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	236						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GACATGTTCCATCAGCTTTGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	138	147			NA	NA	5		NA											NA				136997650		2203	4300	6503	SO:0001583	missense			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021	26249	26249		Kelch-like, BTB/POZ domain containing	6354	protein-coding gene	gene with protein product		605775	kelch (Drosophila)-like 3, kelch-like 3 (Drosophila)		NA	10843806	Standard		NM_017415	NA	Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000508657.1:c.611T>C	5.37:g.136997650A>G	ENSP00000422099:p.Met204Thr	NA	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	37	CCDS58970.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343183	0.82022	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.90650	3.135	0.80722	D	1	P;D;P;D;D	0.67145	0.858;0.996;0.848;0.996;0.976	B;D;P;D;D	0.68621	0.412;0.944;0.511;0.959;0.932	D	0.87765	0.2601	10	0.87932	D	0	.	15.1492	0.72684	1.0:0.0:0.0:0.0	.	5;196;204;236;236	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77;Q8N4I8	.;.;.;KLHL3_HUMAN;.	T	154;204;236;116;196;236	ENSP00000424828:M154T;ENSP00000422099:M204T;ENSP00000312397:M236T;ENSP00000440319:M116T;ENSP00000426173:M196T;ENSP00000378395:M236T	ENSP00000312397:M236T	M	-	2	0	KLHL3	137025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.036000	0.93758	2.234000	0.73211	0.533000	0.62120	ATG	KLHL3-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372235.1		-	ENST00000508657.1	Missense_Mutation	SNP	5 : 136997650 - 136997650 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	287	51
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109	98	102			NA	NA	12		NA											NA				25380275		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.183A>C	12.37:g.25380275T>G	ENSP00000308495:p.Gln61His	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380275 - 25380275 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	315	42
KRTAP4-4	84616	broad.mit.edu	37	17	39316773	39316773	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39316773C>T	ENST00000390661.3	-	1	210	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	57	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGGTGGTCCTGCAGCAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	51	48			NA	NA	17		NA											NA				39316773		2201	4298	6499	SO:0001819	synonymous_variant			AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396	84616	84616		Keratin associated proteins	16928	protein-coding gene	gene with protein product			keratin associated protein 4-13	KRTAP4-13	NA	11279113	Standard		NM_032524	NA	Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.171G>A	17.37:g.39316773C>T		NA	Q9BYU7	37	CCDS11383.1																																																																																			KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257291.1		-	ENST00000390661.3	Silent	SNP	17 : 39316773 - 39316773 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	498	7
KRTAP9-3	83900	broad.mit.edu	37	17	39389179	39389179	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	164	153			NA	NA	17		NA											NA				39389179		2105	4300	6405	SO:0001819	synonymous_variant			AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873	83900	83900		Keratin associated proteins	16927	protein-coding gene	gene with protein product					NA	11279113	Standard		NM_031962	NA	Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.426C>A	17.37:g.39389179C>A		NA		37	CCDS11385.1																																																																																			KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257290.1		+	ENST00000411528.2	Silent	SNP	17 : 39389179 - 39389179 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	812	7
LAIR1	3903	broad.mit.edu	37	19	54872731	54872731	+	Silent	SNP	C	C	T	rs140141368	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:54872731C>T	ENST00000391743.3	-	2	382	c.102G>A	c.(100-102)ccG>ccA	p.P34P	LAIR1_ENST00000391742.2_Silent_p.P52P|LAIR1_ENST00000313038.6_Silent_p.P45P|LAIR1_ENST00000474878.1_Silent_p.P51P|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Silent_p.P52P|LAIR1_ENST00000434277.2_Silent_p.P51P			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	52	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GAACCCCAACCGGGCCCCGGC	0.567		NA												8	0.0037	0.01	NA	2184	NA	1	,	,	NA	4e-04	0.0013	NA	NA	0.0037	0.9941	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	,	24,4382		0,24,2179	113	118	116		156,156	-2.9	0	19	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LAIR1	NM_002287.3,NM_021706.2	,	0,24,6479	TT,TC,CC	NA	0.0,0.5447,0.1845	,	52/288,52/271	54872731	24,12982	2203	4300	6503	SO:0001819	synonymous_variant			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613	3903	3903		Leukocyte-associated Ig like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6477	protein-coding gene	gene with protein product		602992	leukocyte-associated Ig-like receptor 1		NA	9285412	Standard		XM_005258924	NA	Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391743.3:c.102G>A	19.37:g.54872731C>T		NA		37																																																																																				LAIR1-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000140510.2		-	ENST00000391743.3	Silent	SNP	19 : 54872731 - 54872731 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	710	108
LAMA5	3911	broad.mit.edu	37	20	60921843	60921843	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370677.3_Silent_p.Y362Y|LAMA5_ENST00000370692.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	362	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCATGGCCGTAGCAGTTAC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		1,4397	2.1+/-5.4	0,1,2198	29	32	31		1086	-9.7	0.3	20		31	0,8590		0,0,4295	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG	NA	0.0,0.0227,0.0077		362/3696	60921843	1,12987	2199	4295	6494	SO:0001819	synonymous_variant			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1086C>T	20.37:g.60921843G>A		NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1																																																																																			LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Silent	SNP	20 : 60921843 - 60921843 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	142	4
LIPE	3991	broad.mit.edu	37	19	42912459	42912459	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42912459G>A	ENST00000244289.4	-	3	1711	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	479					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.R479W(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGAATGGCCGGATGGCAGGC	0.627		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)											146	134	138			NA	NA	19		NA											NA				42912459		2203	4300	6503	SO:0001583	missense			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3991	3991	3.1.1.3		6621	protein-coding gene	gene with protein product		151750			NA	8506334	Standard	NM_005357	NM_005357	NA	Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1435C>T	19.37:g.42912459G>A	ENSP00000244289:p.Arg479Trp	NA	Q3LRT2|Q6NSL7	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263241	0.59431	.	.	ENSG00000079435	ENST00000244289	T	0.38722	1.12	4.32	2.02	0.26589	Hormone-sensitive lipase, N-terminal (1);	0.087086	0.42821	D	0.000649	T	0.63117	0.2484	M	0.80847	2.515	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.65191	-0.6228	10	0.66056	D	0.02	-18.1983	11.7483	0.51832	0.0:0.0:0.6491:0.3509	.	479;479	A8K8W7;Q05469	.;LIPS_HUMAN	W	479	ENSP00000244289:R479W	ENSP00000244289:R479W	R	-	1	2	LIPE	47604299	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.122000	0.57910	0.307000	0.22880	0.561000	0.74099	CGG	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463861.1		-	ENST00000244289.4	Missense_Mutation	SNP	19 : 42912459 - 42912459 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	608	5
LLGL1	3996	broad.mit.edu	37	17	18138848	18138848	+	Missense_Mutation	SNP	C	C	T	rs141275484		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:18138848C>T	ENST00000316843.4	+	11	1445	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	450					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTGCTGCTGACGGGGTAGGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,4406		0,0,2203	93	80	84		1349	5	1	17	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	LLGL1	NM_004140.3	81	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	450/1065	18138848	1,13005	2203	4300	6503	SO:0001583	missense				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899	3996	3996		WD repeat domain containing	6628	protein-coding gene	gene with protein product		600966	lethal giant larvae (Drosophila) homolog 1	DLG4, LLGL, HUGL, HUGL-1	NA	7542763, 8565641	Standard		XM_005256643	NA	Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1349C>T	17.37:g.18138848C>T	ENSP00000321537:p.Thr450Met	NA	A7MBM7|O00188|Q58F11|Q86UK6	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090348	0.76756	0.0	1.16E-4	ENSG00000131899	ENST00000316843	T	0.33216	1.42	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.090164	0.85682	D	0.000000	T	0.66867	0.2833	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76094	-0.3085	10	0.87932	D	0	-27.9792	17.6696	0.88213	0.0:1.0:0.0:0.0	.	450	Q15334	L2GL1_HUMAN	M	450	ENSP00000321537:T450M	ENSP00000321537:T450M	T	+	2	0	LLGL1	18079573	1.000000	0.71417	0.963000	0.40424	0.227000	0.25037	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	ACG	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132067.3		+	ENST00000316843.4	Missense_Mutation	SNP	17 : 18138848 - 18138848 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	245	4
LRRC40	55631	broad.mit.edu	37	1	70641617	70641617	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:70641617G>C	ENST00000370952.3	-	7	932	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	285										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AGATGTTTAAGATGTTCTGCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	1		NA											NA				70641617		2203	4300	6503	SO:0001583	missense				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557	55631	55631			26004	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017768	NM_017768	NA	Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.853C>G	1.37:g.70641617G>C	ENSP00000359990:p.Leu285Val	NA	Q9BTR7|Q9NSK1|Q9NXC1	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350555	0.61183	.	.	ENSG00000066557	ENST00000370952	T	0.61510	0.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55481	1.735	0.53688	D	0.999978	D	0.67145	0.996	D	0.65573	0.936	T	0.56056	-0.8042	10	0.22706	T	0.39	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	285	Q9H9A6	LRC40_HUMAN	V	285	ENSP00000359990:L285V	ENSP00000359990:L285V	L	-	1	0	LRRC40	70414205	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.021000	0.70832	2.567000	0.86603	0.585000	0.79938	CTT	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025914.1		-	ENST00000370952.3	Missense_Mutation	SNP	1 : 70641617 - 70641617 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	285	16
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	66			NA	NA	4		NA											NA				52860732		1885	4114	5999	SO:0001583	missense			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993	339977	339977			34299	protein-coding gene	gene with protein product					NA		Standard	NM_001024611	XM_005265739	NA	Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2456C>T	4.37:g.52860732G>A	ENSP00000341944:p.Pro819Leu	NA		37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	LRRC66	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361473.1		-	ENST00000343457.3	Missense_Mutation	SNP	4 : 52860732 - 52860732 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	254	5
LRRN4	164312	broad.mit.edu	37	20	6021941	6021941	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:6021941G>A	ENST00000378858.4	-	5	2174	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	650	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCAGCACGCACACGCGGT	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	16	16			NA	NA	20		NA											NA				6021941		2186	4273	6459	SO:0001819	synonymous_variant			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872	164312	164312		Fibronectin type III domain containing	16208	protein-coding gene	gene with protein product			chromosome 20 open reading frame 75	C20orf75	NA	15870286	Standard	NM_152611	NM_152611	NA	Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1950C>T	20.37:g.6021941G>A		NA	A8K258|Q5JWV6|Q9H419	37	CCDS13097.1																																																																																			LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077907.2		-	ENST00000378858.4	Silent	SNP	20 : 6021941 - 6021941 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	184	4
MAP3K19	80122	broad.mit.edu	37	2	135745297	135745297	+	Missense_Mutation	SNP	T	T	C	rs138047676		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:135745297T>C	ENST00000375845.3	-	7	1175	c.1145A>G	c.(1144-1146)cAa>cGa	p.Q382R	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19	NA											NA						TTCTGGATCTTGTTCATAGTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	,ARG/GLN	0,4406		0,0,2203	80	78	79		,1145	2.4	0	2	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,43	0,1,6502	CC,CT,TT	NA	0.0116,0.0,0.0077	,benign	,382/1329	135745297	1,13005	2203	4300	6503	SO:0001583	missense			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	80122	80122		Mitogen-activated protein kinase cascade / Kinase kinase kinases	26249	protein-coding gene	gene with protein product			Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)	YSK4	NA	12477932	Standard	NM_025052	NM_001282883	NA	Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1145A>G	2.37:g.135745297T>C	ENSP00000365005:p.Gln382Arg	NA		37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	5.220	0.226143	0.09916	0.0	1.16E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.71579	-0.58;-0.56;1.77	4.87	2.43	0.29744	.	0.173300	0.27797	N	0.017810	T	0.53449	0.1797	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.24721	0.023;0.11;0.006	B;B;B	0.23419	0.01;0.046;0.003	T	0.43750	-0.9372	10	0.45353	T	0.12	.	4.2146	0.10528	0.1483:0.1641:0.0:0.6876	.	269;399;382	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	R	382;269;399	ENSP00000365005:Q382R;ENSP00000351140:Q269R;ENSP00000376647:Q399R	ENSP00000351140:Q269R	Q	-	2	0	YSK4	135461767	0.002000	0.14202	0.008000	0.14137	0.243000	0.25628	0.664000	0.25068	0.326000	0.23384	0.528000	0.53228	CAA	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158244.1		-	ENST00000375845.3	Missense_Mutation	SNP	2 : 135745297 - 135745297 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	369	53
MDN1	23195	broad.mit.edu	37	6	90422465	90422465	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:90422465C>T	ENST00000369393.3	-	48	7374	c.7259G>A	c.(7258-7260)cGa>cAa	p.R2420Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGTGCTCGCAAAGAAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	6		NA											NA				90422465		2203	4300	6503	SO:0001583	missense			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159	23195	23195			18302	protein-coding gene	gene with protein product					NA	9205841, 12102729	Standard		XM_005248699	NA	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7259G>A	6.37:g.90422465C>T	ENSP00000358400:p.Arg2420Gln	NA	O15019|Q5T794	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093904	0.20471	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02837	4.14;4.14	5.62	-6.75	0.01738	.	1.628850	0.03584	N	0.230613	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.47649	-0.9101	10	0.13108	T	0.6	.	6.2293	0.20726	0.0757:0.219:0.127:0.5784	.	2420	Q9NU22	MDN1_HUMAN	Q	2420	ENSP00000358400:R2420Q;ENSP00000413970:R2420Q	ENSP00000358400:R2420Q	R	-	2	0	MDN1	90479186	0.000000	0.05858	0.005000	0.12908	0.504000	0.33889	-1.025000	0.03600	-0.943000	0.03691	0.467000	0.42956	CGA	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041514.2		-	ENST00000369393.3	Missense_Mutation	SNP	6 : 90422465 - 90422465 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	357	42
METTL17	64745	broad.mit.edu	37	14	21464862	21464862	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:21464862G>A	ENST00000339374.6	+	13	1490	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	419					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGCCCGCCGGCACGGCAGGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	85	86			NA	NA	14		NA											NA				21464862		2203	4300	6503	SO:0001819	synonymous_variant			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792	64745	64745			19280	protein-coding gene	gene with protein product			methyltransferase 11 domain containing 1	METT11D1	NA	11278769	Standard	NM_022734	XM_006720235	NA	Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1257G>A	14.37:g.21464862G>A		NA	Q9BSH1|Q9BZH2|Q9BZH3	37	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239398	0.22711	.	.	ENSG00000165792	ENST00000556733	.	.	.	5.34	-0.867	0.10655	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	6.8405	0.23961	0.2595:0.2368:0.5037:0.0	.	.	.	.	T	95	.	.	A	+	1	0	METTL17	20534702	0.219000	0.23619	0.781000	0.31783	0.977000	0.68977	0.050000	0.14120	-0.066000	0.12998	0.655000	0.94253	GCA	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073804.4		+	ENST00000339374.6	Silent	SNP	14 : 21464862 - 21464862 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	463	6
MTHFD2L	441024	broad.mit.edu	37	4	75041057	75041057	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:75041057G>A	ENST00000325278.6	+	3	354	c.214G>A	c.(214-216)Gta>Ata	p.V72I	MTHFD2L_ENST00000395759.2_Missense_Mutation_p.V130I|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I			Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	72					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTTTTGGACGTAACTGATCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	136	138			NA	NA	4		NA											NA				75041057		2203	4300	6503	SO:0001583	missense			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738	441024	441024			31865	protein-coding gene	gene with protein product		614047			NA	21163947	Standard	NM_001004346	NM_001144978	NA	Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000325278.6:c.214G>A	4.37:g.75041057G>A	ENSP00000321984:p.Val72Ile	NA	Q6P079|Q8N560	37		.	.	.	.	.	.	.	.	.	.	A	7.970	0.748962	0.15710	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29917	1.97;1.56;1.55;1.98	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.213853	0.50627	N	0.000109	T	0.16642	0.0400	N	0.16201	0.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.08973	-1.0696	10	0.28530	T	0.3	-29.7782	6.9337	0.24455	0.8268:0.0:0.1732:0.0	.	130;72	Q9H903;Q9H903-3	MTD2L_HUMAN;.	I	130;72;72;72	ENSP00000379108:V130I;ENSP00000330982:V72I;ENSP00000352012:V72I;ENSP00000321984:V72I	ENSP00000321984:V72I	V	+	1	0	MTHFD2L	75259921	0.039000	0.19947	0.997000	0.53966	0.849000	0.48306	0.068000	0.14531	1.067000	0.40740	-0.268000	0.10319	GTA	MTHFD2L-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000347552.2		+	ENST00000325278.6	Missense_Mutation	SNP	4 : 75041057 - 75041057 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	303	5
NEGR1	257194	broad.mit.edu	37	1	71873147	71873147	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.5	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K|NEGR1_ENST00000434200.1_Silent_p.K303K	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	NA					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGCATTCTTCAGGTAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	1		NA											NA				71873147		2203	4300	6503	SO:0001819	synonymous_variant			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260	257194	257194		Immunoglobulin superfamily / I-set domain containing	17302	protein-coding gene	gene with protein product	a kindred of IgLON, neurotractin, IgLON family member 4	613173			NA	10075727	Standard	NM_173808	NM_173808	NA	Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1047G>A	1.37:g.71873147C>T		NA	Q5VT21|Q6UY06|Q8NAQ3	37	CCDS661.1																																																																																			NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026722.4		-	ENST00000357731.5	Silent	SNP	1 : 71873147 - 71873147 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	237	34
OLFML2B	25903	broad.mit.edu	37	1	161953822	161953822	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:161953822G>A	ENST00000367940.2	-	8	2108	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	OLFML2B_ENST00000294794.3_Silent_p.I632I|OLFML2B_ENST00000367938.1_Silent_p.I115I			Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	632	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGCCGGGTAGATGAGCCATA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	62	65			NA	NA	1		NA											NA				161953822		2203	4300	6503	SO:0001819	synonymous_variant			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745	25903	25903			24558	protein-coding gene	gene with protein product					NA		Standard	NM_015441	XM_005245075	NA	Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000367940.2:c.1899C>T	1.37:g.161953822G>A		NA	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	37																																																																																				OLFML2B-006	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383006.1		-	ENST00000367940.2	Silent	SNP	1 : 161953822 - 161953822 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	373	62
OR5K3	403277	broad.mit.edu	37	3	98109887	98109887	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:98109887A>G	ENST00000383695.1	+	1	378	c.378A>G	c.(376-378)atA>atG	p.I126M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGTGGCCATATGCAACCCAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	162	165			NA	NA	3		NA											NA				98109887		2203	4300	6503	SO:0001583	missense				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536	403277	403277		GPCR / Class A : Olfactory receptors	31290	protein-coding gene	gene with protein product					NA		Standard		NM_001005516	NA	Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.378A>G	3.37:g.98109887A>G	ENSP00000373194:p.Ile126Met	NA		37	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056919	0.55325	.	.	ENSG00000206536	ENST00000383695	T	0.59083	0.29	5.15	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	0.331813	0.21303	N	0.076767	T	0.80082	0.4558	H	0.98238	4.18	0.25262	N	0.98958	D	0.89917	1.0	D	0.97110	1.0	T	0.70894	-0.4748	10	0.87932	D	0	-61.4606	8.1546	0.31160	0.2367:0.5363:0.0:0.2271	.	126	A6NET4	OR5K3_HUMAN	M	126	ENSP00000373194:I126M	ENSP00000373194:I126M	I	+	3	3	OR5K3	99592577	0.004000	0.15560	0.808000	0.32385	0.947000	0.59692	-1.359000	0.02602	-0.708000	0.05015	0.491000	0.48974	ATA	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359110.1		+	ENST00000383695.1	Missense_Mutation	SNP	3 : 98109887 - 98109887 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	689	154
OR5M3	219482	broad.mit.edu	37	11	56237570	56237570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:56237570G>C	ENST00000312240.2	-	1	444	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACAACCCTTGACATTTTACT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	11		NA											NA				56237570		2201	4290	6491	SO:0001587	stop_gained			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937	219482	219482		GPCR / Class A : Olfactory receptors	14806	protein-coding gene	gene with protein product					NA		Standard	NM_001004742	NM_001004742	NA	Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.404C>G	11.37:g.56237570G>C	ENSP00000312208:p.Ser135*	NA	B2RNM7|Q6IEW4|Q96RC0	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502469	0.64298	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.13	4.15	0.48705	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6464	11.3494	0.49579	0.0:0.0:0.692:0.308	.	.	.	.	X	135	.	ENSP00000312208:S135X	S	-	2	0	OR5M3	55994146	0.250000	0.23951	0.977000	0.42913	0.808000	0.45660	0.644000	0.24766	2.381000	0.81170	0.478000	0.44815	TCA	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391639.1		-	ENST00000312240.2	Nonsense_Mutation	SNP	11 : 56237570 - 56237570 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	614	8
PACS2	23241	broad.mit.edu	37	14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000325438.8	+	3	792_794	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	97					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGACCTTCTCCTTGCAGGTG	0.616		NA									OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364	23241	23241			23794	protein-coding gene	gene with protein product		610423	phosphofurin acidic cluster sorting protein 1-like	PACS1L	NA	15692567	Standard	XM_377355	NM_001100913	NA	Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.288_290delCTC	14.37:g.105818795_105818797delCTC	ENSP00000321834:p.Ser97del	1392	A2VDJ9|O60342|Q6P191|Q96FL7	37	CCDS32168.1																																																																																			PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409209.1		+	ENST00000325438.8	In_Frame_Del	DEL	14 : 105818795 - 105818797 - PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	460	87
PARD6A	50855	broad.mit.edu	37	16	67695975	67695975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67695975C>T	ENST00000458121.2	+	3	554	c.463C>T	c.(463-465)Cga>Tga	p.R155*	PARD6A_ENST00000219255.3_Nonsense_Mutation_p.R156*|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	156	Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGACCCACCGACGGGTGCG	0.647		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	16		NA											NA				67695975		2198	4300	6498	SO:0001587	stop_gained				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981	50855	50855			15943	protein-coding gene	gene with protein product		607484	par-6 (partitioning defective 6, C.elegans) homolog alpha, par-6 partitioning defective 6 homolog alpha (C. elegans)		NA	9482110, 11260256	Standard	NM_016948	XM_005255977	NA	Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000458121.2:c.463C>T	16.37:g.67695975C>T	ENSP00000392388:p.Arg155*	NA	O14911|Q9NPJ7	37	CCDS45514.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342839	0.82022	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	.	.	.	5.07	4.1	0.47936	.	0.073470	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4892	11.7101	0.51620	0.3209:0.6791:0.0:0.0	.	.	.	.	X	155;156	.	ENSP00000219255:R156X	R	+	1	2	PARD6A	66253476	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.149000	0.42244	1.091000	0.41335	0.563000	0.77884	CGA	PARD6A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467881.1		+	ENST00000458121.2	Nonsense_Mutation	SNP	16 : 67695975 - 67695975 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	518	66
PCDH7	5099	broad.mit.edu	37	4	30723222	30723222	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:30723222G>A	ENST00000361762.2	+	1	1186	c.178G>A	c.(178-180)Gga>Aga	p.G60R	PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	60	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATCGTGACCGGATCGGGTGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	50	52			NA	NA	4		NA											NA				30723222		2203	4300	6503	SO:0001583	missense			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851	5099	5099		Cadherins / Protocadherins : Non-clustered	8659	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 120	602988	BH-protocadherin (brain-heart)		NA	9615233	Standard	NM_032457, NM_002589	NM_002589	NA	Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.178G>A	4.37:g.30723222G>A	ENSP00000355243:p.Gly60Arg	NA	O60246|O60247|Q4W5C4	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021922	0.54576	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.26660	1.72;1.72	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.37758	0.1015	N	0.24115	0.695	0.42849	D	0.994078	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.68765	0.943;0.96;0.936	T	0.27123	-1.0083	9	0.51188	T	0.08	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	60;60;60	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	R	60	ENSP00000355243:G60R;ENSP00000441802:G60R	ENSP00000330302:G60R	G	+	1	0	PCDH7	30332320	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	9.650000	0.98490	2.364000	0.80123	0.305000	0.20034	GGA	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360366.1		+	ENST00000361762.2	Missense_Mutation	SNP	4 : 30723222 - 30723222 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	230	4
PEG3	5178	broad.mit.edu	37	19	57335031	57335031	+	Silent	SNP	G	G	A	rs146592671	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57335031G>A	ENST00000326441.9	-	5	774	c.411C>T	c.(409-411)gaC>gaT	p.D137D	PEG3_ENST00000423103.2_Silent_p.D137D|ZIM2_ENST00000593711.1_Silent_p.D11D|ZIM2_ENST00000601070.1_Silent_p.D11D|PEG3_ENST00000598410.1_Silent_p.D11D|ZIM2_ENST00000599935.1_Silent_p.D11D|PEG3_ENST00000593695.1_Silent_p.D11D|ZIM2_ENST00000221722.5_Silent_p.D11D|ZIM2_ENST00000593931.1_Silent_p.D11D|ZIM2_ENST00000391708.3_Silent_p.D11D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	137					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCTGGTCACGTCACTGTTGT	0.552		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	4e-04	NA	NA	NA	0.0014	0.9844	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	,,,,,,,	22,4384	29.0+/-57.7	0,22,2181	271	199	223		411,33,411,33,33,33,411,33	0.6	0.1	19	dbSNP_134	223	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	,,,,,,,	0,23,6480	AA,AG,GG	NA	0.0116,0.4993,0.1768	,,,,,,,	137/1589,11/1463,137/1589,11/1465,11/528,11/528,137/1589,11/528	57335031	23,12983	2203	4300	6503	SO:0001819	synonymous_variant			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.411C>T	19.37:g.57335031G>A		NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1																																																																																			PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Silent	SNP	19 : 57335031 - 57335031 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	483	59
PEX19	5824	broad.mit.edu	37	1	160250012	160250012	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:160250012G>A	ENST00000368072.5	-	6	640	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	DCAF8_ENST00000608310.1_Missense_Mutation_p.R60W|PEX19_ENST00000440949.3_Missense_Mutation_p.R117W|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19	NA										cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGATTCCCGATGACTCTGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	143	143			NA	NA	1		NA											NA				160250012		2203	4300	6503	SO:0001583	missense			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735	5824	5824			9713	protein-coding gene	gene with protein product	housekeeping gene, 33kD	600279	peroxisomal farnesylated protein	PXF	NA	9339377, 10051604	Standard	NM_002857	NM_002857	NA	Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.619C>T	1.37:g.160250012G>A	ENSP00000357051:p.Arg207Trp	NA		37	CCDS1201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976964|3.976964	0.74360|0.74360	.|.	.|.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735|ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220|ENST00000495624	T;T|.	0.65549|.	-0.16;-0.16|.	5.66|5.66	4.69|4.69	0.59074|0.59074	.|.	0.360515|.	0.28052|.	N|.	0.016795|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.42245|0.42245	1.32|1.32	0.43025|0.43025	D|D	0.994581|0.994581	D;P|.	0.89917|.	1.0;0.953|.	P;B|.	0.59948|.	0.866;0.426|.	T|T	0.59726|0.59726	-0.7400|-0.7400	10|6	0.87932|0.87932	D|D	0|0	0.0173|0.0173	15.029|15.029	0.71691|0.71691	0.0:0.143:0.857:0.0|0.0:0.143:0.857:0.0	.|.	60;207|.	G3V3G9;P40855|.	.;PEX19_HUMAN|.	W|L	60;60;77;207;187;117;187|44	ENSP00000451989:R60W;ENSP00000451235:R60W|.	ENSP00000357051:R207W|ENSP00000435896:S158L	R|S	-|-	1|2	2|0	RP11-574F21.3;PEX19;DCAF8|PEX19	158516636|158516636	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.994000|0.994000	0.84299|0.84299	3.142000|3.142000	0.50601|0.50601	2.665000|2.665000	0.90641|0.90641	0.563000|0.563000	0.77884|0.77884	CGG|TCG	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080642.2		-	ENST00000368072.5	Missense_Mutation	SNP	1 : 160250012 - 160250012 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	646	7
PHKB	5257	broad.mit.edu	37	16	47683068	47683068	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:47683068G>A	ENST00000299167.8	+	18	1775	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000455779.1_Missense_Mutation_p.D577N|PHKB_ENST00000323584.5_Missense_Mutation_p.D584N			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	584					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGACCTAAGTGATTTCTACAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	160	164			NA	NA	16		NA											NA				47683068		2201	4300	6501	SO:0001583	missense				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	5257	5257	2.7.11.19		8927	protein-coding gene	gene with protein product		172490			NA		Standard		NM_000293	NA	Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000299167.8:c.1750G>A	16.37:g.47683068G>A	ENSP00000299167:p.Asp584Asn	NA	Q8N4T5	37		.	.	.	.	.	.	.	.	.	.	G	35	5.512079	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91180	-2.8;-2.8	5.89	5.89	0.94794	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95278	0.8383	10	0.59425	D	0.04	-29.7077	19.8459	0.96707	0.0:0.0:1.0:0.0	.	584;577	Q93100;Q93100-4	KPBB_HUMAN;.	N	577;577;584	ENSP00000414345:D577N;ENSP00000313504:D584N	ENSP00000299167:D577N	D	+	1	0	PHKB	46240569	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.037000	0.93765	2.788000	0.95919	0.585000	0.79938	GAT	PHKB-001	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000256767.3		+	ENST00000299167.8	Missense_Mutation	SNP	16 : 47683068 - 47683068 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	482	69
PLA2G4A	5321	broad.mit.edu	37	1	186916023	186916023	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186916023C>A	ENST00000367466.3	+	12	1346	c.1194C>A	c.(1192-1194)tcC>tcA	p.S398S	PLA2G4A_ENST00000442353.2_Silent_p.S338S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	398	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTGCCTTTTCCATATTGTTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	148	149			NA	NA	1		NA											NA				186916023		2203	4300	6503	SO:0001819	synonymous_variant			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	5321	5321	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4	NA	8175726	Standard	NM_024420	NM_024420	NA	Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1194C>A	1.37:g.186916023C>A		NA	B1AKG4|Q29R80	37	CCDS1372.1																																																																																			PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086236.1		+	ENST00000367466.3	Silent	SNP	1 : 186916023 - 186916023 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	469	52
PLCB3	5331	broad.mit.edu	37	11	64026576	64026576	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:64026576G>A	ENST00000540288.1	+	13	1488	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	462	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGATGGGCCGTATCCTGGTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	23	21			NA	NA	11		NA											NA				64026576		2200	4296	6496	SO:0001583	missense			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	5331	5331	3.1.4.11		9056	protein-coding gene	gene with protein product		600230			NA	7849701	Standard		NM_000932	NA	Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1385G>A	11.37:g.64026576G>A	ENSP00000443631:p.Arg462His	NA	A5PKZ6	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196608	0.79015	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.66995	-0.24;-0.24;-0.24	4.58	4.58	0.56647	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.123452	0.53938	D	0.000042	T	0.74230	0.3689	M	0.77486	2.375	0.45464	D	0.998435	D;D	0.63880	0.993;0.979	P;P	0.53593	0.73;0.697	T	0.78178	-0.2305	10	0.87932	D	0	.	9.9241	0.41481	0.0964:0.0:0.9036:0.0	.	395;462	G5E960;Q01970	.;PLCB3_HUMAN	H	462;462;395	ENSP00000279230:R462H;ENSP00000443631:R462H;ENSP00000324660:R395H	ENSP00000279230:R462H	R	+	2	0	PLCB3	63783152	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	4.876000	0.63079	2.111000	0.64477	0.561000	0.74099	CGT	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396405.1		+	ENST00000540288.1	Missense_Mutation	SNP	11 : 64026576 - 64026576 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	133	4
PMFBP1	83449	broad.mit.edu	37	16	72159998	72159998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:72159998G>A	ENST00000537465.1	-	15	2295	c.2137C>T	c.(2137-2139)Cag>Tag	p.Q713*	PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q708*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	713										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGGGCCTGCAGGCTCATT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	167	168			NA	NA	16		NA											NA				72159998		2198	4300	6498	SO:0001587	stop_gained			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557	83449	83449			17728	protein-coding gene	gene with protein product					NA	11468771	Standard	NM_031293	NM_031293	NA	Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537465.1:c.2137C>T	16.37:g.72159998G>A	ENSP00000443817:p.Gln713*	NA	Q8NA09|Q9BY16|Q9H0H4	37		.	.	.	.	.	.	.	.	.	.	G	38	6.764837	0.97821	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	3.65	0.376	0.16193	.	0.562263	0.15003	N	0.286009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-8.2085	6.0918	0.19999	0.0:0.1753:0.4053:0.4194	.	.	.	.	X	713;708;563	.	ENSP00000237353:Q708X	Q	-	1	0	PMFBP1	70717499	0.865000	0.29922	0.202000	0.23494	0.018000	0.09664	0.360000	0.20250	0.113000	0.18004	-0.172000	0.13284	CAG	PMFBP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000396483.2		-	ENST00000537465.1	Nonsense_Mutation	SNP	16 : 72159998 - 72159998 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	896	9
PTPRF	5792	broad.mit.edu	37	1	44069850	44069850	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44069850G>A	ENST00000359947.4	+	16	3367	c.3027G>A	c.(3025-3027)ccG>ccA	p.P1009P	PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000438120.1_Silent_p.P1000P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.P999P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACCATGCCGGTGGAGCAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											63	59	60			NA	NA	1		NA											NA				44069850		2203	4300	6503	SO:0001819	synonymous_variant			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3027G>A	1.37:g.44069850G>A		NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698940|-1.698940	0.00725|0.00725	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.92|4.92	-9.55|-9.55	0.00569|0.00569	.|.	.|.	.|.	.|.	.|.	T|T	0.32164|0.32164	0.0820|0.0820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	.|.	1.4878|1.4878	0.02451|0.02451	0.3792:0.1043:0.1405:0.376|0.3792:0.1043:0.1405:0.376	.|.	.|.	.|.	.|.	S|Q	423|655	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43842437|43842437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-3.041000|-3.041000	0.00632|0.00632	-1.978000|-1.978000	0.00993|0.00993	-4.209000|-4.209000	0.00009|0.00009	GGT|CGG	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Silent	SNP	1 : 44069850 - 44069850 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	304	5
RAB25	57111	broad.mit.edu	37	1	156038083	156038083	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:156038083G>A	ENST00000361084.5	+	3	503	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	88					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCAGTGGGGGCCCTCCTGGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	106	107			NA	NA	1		NA											NA				156038083		2113	4264	6377	SO:0001583	missense			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698	57111	57111		RAB, member RAS oncogene	18238	protein-coding gene	gene with protein product		612942			NA	11697911	Standard		NM_020387	NA	Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.262G>A	1.37:g.156038083G>A	ENSP00000354376:p.Ala88Thr	NA	Q5VYA2|Q8NG24|Q96GB1|Q9BT12	37	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595812	0.96602	.	.	ENSG00000132698	ENST00000361084	T	0.81163	-1.46	5.19	5.19	0.71726	Small GTP-binding protein domain (1);	0.106823	0.64402	D	0.000006	D	0.92851	0.7726	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94704	0.7886	10	0.87932	D	0	.	17.4443	0.87574	0.0:0.0:1.0:0.0	.	88	P57735	RAB25_HUMAN	T	88	ENSP00000354376:A88T	ENSP00000354376:A88T	A	+	1	0	RAB25	154304707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.520000	0.98027	2.686000	0.91538	0.655000	0.94253	GCC	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046185.1		+	ENST00000361084.5	Missense_Mutation	SNP	1 : 156038083 - 156038083 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	692	109
RAD54L	8438	broad.mit.edu	37	1	46739341	46739341	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46739341G>A	ENST00000371975.4	+	14	2206	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	511	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACCCGAAGCCGTAGCAGTGAC	0.542		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	70	75	73		1532,1532	3	0.9	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_003579.3,NM_001142548.1	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	511/748,511/748	46739341	1,13005	2203	4300	6503	SO:0001583	missense			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999	8438	8438			9826	protein-coding gene	gene with protein product		603615	RAD54 (S.cerevisiae)-like		NA	8805304	Standard	NM_003579	NM_003579	NA	Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1532G>A	1.37:g.46739341G>A	ENSP00000361043:p.Arg511His	NA	Q5TE31|Q6IUY3	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893653	0.52121	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75367	-0.93;-0.93	4.94	2.99	0.34606	Helicase, C-terminal (1);	0.260402	0.43260	D	0.000586	T	0.55033	0.1895	N	0.17564	0.495	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.52328	-0.8590	10	0.45353	T	0.12	0.0048	7.8659	0.29537	0.0986:0.3489:0.5525:0.0	.	331;511	G3V1N0;Q92698	.;RAD54_HUMAN	H	511;511;331	ENSP00000396113:R511H;ENSP00000361043:R511H	ENSP00000361043:R511H	R	+	2	0	RAD54L	46511928	1.000000	0.71417	0.888000	0.34837	0.852000	0.48524	4.373000	0.59537	1.341000	0.45600	-0.259000	0.10710	CGT	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021272.1		+	ENST00000371975.4	Missense_Mutation	SNP	1 : 46739341 - 46739341 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	159	4
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47	53	51		1907,1907,1907	2.4	1	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965	9904	9904		RNA binding motif (RRM) containing	29098	protein-coding gene	gene with protein product					NA	9734811, 11230166	Standard	NM_016196	NM_016196	NA	Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	12.37:g.114377796C>T	ENSP00000442053:p.Arg636His	NA	Q9BPY6|Q9UFN5	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405251.1		-	ENST00000545145.2	Missense_Mutation	SNP	12 : 114377796 - 114377796 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	532	8
RGAG1	57529	broad.mit.edu	37	X	109695238	109695238	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	131	138			NA	NA	X		NA											NA				109695238		2203	4300	6503	SO:0001583	missense			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978	57529	57529			29245	protein-coding gene	gene with protein product					NA	10718198, 15716091, 16093683	Standard	NM_020769	NM_020769	NA	Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1393G>A	X.37:g.109695238G>A	ENSP00000419786:p.Ala465Thr	NA	Q9P2M8	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136859	0.01742	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.32515	1.45;1.45	3.97	-4.1	0.03940	.	0.573732	0.13288	N	0.399198	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32587	-0.9901	9	.	.	.	-4.4633	3.6067	0.08045	0.2422:0.0:0.3007:0.4571	.	465	Q8NET4	RGAG1_HUMAN	T	465	ENSP00000419786:A465T;ENSP00000441452:A465T	.	A	+	1	0	RGAG1	109581894	0.810000	0.29049	0.009000	0.14445	0.055000	0.15305	0.501000	0.22578	-0.859000	0.04105	-1.087000	0.02190	GCA	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057906.2		+	ENST00000465301.2	Missense_Mutation	SNP	X : 109695238 - 109695238 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	459	6
RGMA	56963	broad.mit.edu	37	15	93595475	93595475	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:93595475C>T	ENST00000556658.1	-	4	886	c.66G>A	c.(64-66)ccG>ccA	p.P22P	RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000329082.7_Silent_p.P131P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.P139P			Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	131					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	47	44			NA	NA	15		NA											NA				93595475		2190	4294	6484	SO:0001819	synonymous_variant			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175	56963	56963			30308	protein-coding gene	gene with protein product		607362	RGM domain family, member A		NA	15975920	Standard	NM_020211	NM_020211	NA	Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000556658.1:c.66G>A	15.37:g.93595475C>T		NA	B2RTW1|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	37																																																																																				RGMA-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415097.2		-	ENST00000556658.1	Silent	SNP	15 : 93595475 - 93595475 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	454	60
RIMS2	9699	broad.mit.edu	37	8	105026802	105026802	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105026802G>A	ENST00000436393.2	+	17	2754	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R912Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAAGGGGCCGACAGCTTCCA	0.443		NA								HNSCC(12;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	78	76			NA	NA	8		NA											NA				105026802		1923	4110	6033	SO:0001583	missense			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14			9699	9699			17283	protein-coding gene	gene with protein product		606630	RAB3 interacting protein 3	RAB3IP3	NA	9872452, 12578829	Standard	NM_001100117	NM_014677	NA	Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2513G>A	8.37:g.105026802G>A	ENSP00000390665:p.Arg838Gln	NA	O43413|Q86XL9|Q8IWV9|Q8IWW1	37		.	.	.	.	.	.	.	.	.	.	G	26.3	4.726423	0.89298	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.57273	0.41;2.37;2.07;1.98;0.65;1.18	5.63	5.63	0.86233	.	.	.	.	.	T	0.68155	0.2970	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.974;0.996;0.993;0.996	T	0.69258	-0.5192	9	0.72032	D	0.01	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	1160;838;937;912;1098	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	1098;1135;1098;1160;937;912;912;838	ENSP00000427018:R1098Q;ENSP00000384892:R1098Q;ENSP00000262231:R937Q;ENSP00000423559:R912Q;ENSP00000386228:R912Q;ENSP00000390665:R838Q	ENSP00000262231:R937Q	R	+	2	0	RIMS2	105095978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.175000	0.94831	2.652000	0.90054	0.591000	0.81541	CGA	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367217.1		+	ENST00000436393.2	Missense_Mutation	SNP	8 : 105026802 - 105026802 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	248	31
RP1L1	94137	broad.mit.edu	37	8	10470231	10470231	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:10470231G>A	ENST00000382483.3	-	4	1600	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	459					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGGGAGGCCGGTGCTGGAGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	34	32			NA	NA	8		NA											NA				10470231		2000	4150	6150	SO:0001819	synonymous_variant			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638	94137	94137			15946	protein-coding gene	gene with protein product		608581			NA	12634863	Standard		NM_178857	NA	Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1377C>T	8.37:g.10470231G>A		NA		37	CCDS43708.1																																																																																			RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375673.1		-	ENST00000382483.3	Silent	SNP	8 : 10470231 - 10470231 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	622	91
SCN3A	6328	broad.mit.edu	37	2	165953881	165953881	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:165953881C>A	ENST00000283254.7	-	23	4587	c.4120G>T	c.(4120-4122)Gac>Tac	p.D1374Y	SCN3A_ENST00000360093.3_Missense_Mutation_p.D1374Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1374						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCACTAATGTCAAACATGTTA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	122	128			NA	NA	2		NA											NA				165953881		2203	4300	6503	SO:0001583	missense			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253	6328	6328		Sodium channels, Voltage-gated ion channels / Sodium channels	10590	protein-coding gene	gene with protein product		182391	sodium channel, voltage-gated, type III, alpha polypeptide		NA	9589372, 16382098	Standard	NM_006922	NM_001081676	NA	Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000283254.7:c.4120G>T	2.37:g.165953881C>A	ENSP00000283254:p.Asp1374Tyr	NA	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	37	CCDS33312.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705927	0.48412	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96522	-4.04;-4.04;-3.98;-3.8	5.72	1.94	0.25998	Ion transport (1);	0.992515	0.08199	N	0.982552	D	0.97470	0.9172	M	0.80332	2.49	0.80722	D	1	P;P;B;B;P	0.41910	0.764;0.642;0.25;0.25;0.722	P;B;B;B;P	0.58130	0.833;0.353;0.173;0.173;0.743	D	0.92897	0.6336	10	0.72032	D	0.01	.	6.9439	0.24508	0.0:0.6271:0.1154:0.2575	.	1374;1325;1325;1325;1374	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1374;1374;1325;1325	ENSP00000353206:D1374Y;ENSP00000283254:D1374Y;ENSP00000386726:D1325Y;ENSP00000403348:D1325Y	ENSP00000283254:D1374Y	D	-	1	0	SCN3A	165662127	1.000000	0.71417	0.488000	0.27440	0.504000	0.33889	1.422000	0.34826	0.149000	0.19098	-0.812000	0.03155	GAC	SCN3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102655.2		-	ENST00000283254.7	Missense_Mutation	SNP	2 : 165953881 - 165953881 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	322	42
SEPHS2	22928	broad.mit.edu	37	16	30455811	30455811	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30455811G>A	ENST00000478753.2	-	1	1691	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M|SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	413					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GATCCGGGCCGTTCGGTTTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(81;1142 1261 11202 24614 35697)							NA				0													71	74	73			NA	NA	16		NA											NA				30455811		1990	4148	6138	SO:0001583	missense			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918	22928	22928			19686	protein-coding gene	gene with protein product		606218			NA	10608886	Standard	NM_012248	NM_012248	NA	Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1238C>T	16.37:g.30455811G>A	ENSP00000418669:p.Thr413Met	NA	Q9BUQ2	37		.	.	.	.	.	.	.	.	.	.	G	7.619	0.676333	0.14841	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.18174	2.23;2.23;2.23	5.28	4.32	0.51571	AIR synthase-related protein, C-terminal (2);	0.239370	0.39834	N	0.001245	T	0.18882	0.0453	L	0.61387	1.9	0.80722	D	1	P;B	0.42039	0.769;0.091	B;B	0.36186	0.219;0.082	T	0.03268	-1.1054	10	0.48119	T	0.1	-14.479	14.0137	0.64513	0.0:0.1527:0.8473:0.0	.	413;356	Q99611;F5H8F9	SPS2_HUMAN;.	M	413;356;364;413	ENSP00000418669:T413M;ENSP00000443601:T356M;ENSP00000426234:T413M	ENSP00000390233:T364M	T	-	2	0	SEPHS2	30363312	1.000000	0.71417	0.880000	0.34516	0.045000	0.14185	4.815000	0.62634	1.361000	0.45981	-0.176000	0.13171	ACG	SEPHS2-001	KNOWN	basic|seleno	protein_coding	NA	protein_coding	OTTHUMT00000109640.11		-	ENST00000478753.2	Missense_Mutation	SNP	16 : 30455811 - 30455811 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	356	5
SLC12A9	56996	broad.mit.edu	37	7	100460407	100460407	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100460407G>A	ENST00000354161.3	+	13	1941	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	606						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCACCCTCCGTGCGCCAGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	107	115			NA	NA	7		NA											NA				100460407		2203	4300	6503	SO:0001583	missense			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828	56996	56996		Solute carriers	17435	protein-coding gene	gene with protein product	cation-chloride cotransporter-interacting protein				NA	10871601, 11239002	Standard	NM_020246	NM_020246	NA	Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1816G>A	7.37:g.100460407G>A	ENSP00000275730:p.Val606Met	NA	D6W5X0|D6W5X2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787707	0.90367	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.93953	-2.61;-2.61;-2.24;-2.24;-3.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.968	D	0.96645	0.9477	10	0.66056	D	0.02	.	16.1082	0.81241	0.0:0.0:1.0:0.0	.	517;606	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	M	606;606;517;517;606;232	ENSP00000443702:V606M;ENSP00000408301:V606M;ENSP00000275729:V517M;ENSP00000413796:V517M;ENSP00000275730:V606M	ENSP00000275729:V517M	V	+	1	0	SLC12A9	100298343	1.000000	0.71417	0.950000	0.38849	0.891000	0.51852	7.581000	0.82535	2.404000	0.81709	0.491000	0.48974	GTG	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342837.1		+	ENST00000354161.3	Missense_Mutation	SNP	7 : 100460407 - 100460407 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	878	135
SLC16A10	117247	broad.mit.edu	37	6	111493921	111493921	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:111493921G>T	ENST00000368851.5	+	2	542	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	123					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TCTCTCCATGGGGATGATTTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	143	148			NA	NA	6		NA											NA				111493921		2203	4300	6503	SO:0001583	missense			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394	117247	117247		Solute carriers	17027	protein-coding gene	gene with protein product		607550	solute carrier family 16 (monocarboxylic acid transporters), member 10		NA	11278508, 11827462	Standard		NM_018593	NA	Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.367G>T	6.37:g.111493921G>T	ENSP00000357844:p.Gly123Trp	NA	B3KWY0|Q6ZMG0|Q8WVI5	37	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.741282|4.741282	0.89573|0.89573	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.56103|.	0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Major facilitator superfamily domain, general substrate transporter (1);|.	0.092388|.	0.85682|.	D|.	0.000000|.	D|D	0.85344|0.85344	0.5675|0.5675	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88182|0.88182	0.2871|0.2871	10|5	0.87932|.	D|.	0|.	.|.	19.7204|19.7204	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	W|C	123;123;14|8	ENSP00000357844:G123W|.	ENSP00000357844:G123W|.	G|W	+|+	1|3	0|0	SLC16A10|SLC16A10	111600614|111600614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.414000|9.414000	0.97362|0.97362	2.662000|2.662000	0.90505|0.90505	0.491000|0.491000	0.48974|0.48974	GGG|TGG	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041822.2		+	ENST00000368851.5	Missense_Mutation	SNP	6 : 111493921 - 111493921 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	439	24
SNRPA	6626	broad.mit.edu	37	19	41268935	41268935	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:41268935C>T	ENST00000243563.3	+	4	1106	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	186	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGGGCCATGCCCCCGCAGCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/PRO	0,4406		0,0,2203	25	27	27		556	4.4	1	19		27	1,8599		0,1,4299	no	missense	SNRPA	NM_004596.4	74	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	186/283	41268935	1,13005	2203	4300	6503	SO:0001583	missense			X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312	6626	6626		RNA binding motif (RRM) containing	11151	protein-coding gene	gene with protein product		182285			NA	1701111	Standard	NM_004596	NM_004596	NA	Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.556C>T	19.37:g.41268935C>T	ENSP00000243563:p.Pro186Ser	NA		37	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661899	0.67700	0.0	1.16E-4	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.27557	1.66	5.42	4.39	0.52855	.	0.000000	0.64402	D	0.000014	T	0.45637	0.1352	L	0.60455	1.87	0.40094	D	0.976284	D	0.57571	0.98	P	0.59424	0.857	T	0.39231	-0.9624	10	0.37606	T	0.19	-16.183	12.9433	0.58359	0.0:0.9199:0.0:0.0801	.	186	P09012	SNRPA_HUMAN	S	186;107	ENSP00000243563:P186S	ENSP00000243563:P186S	P	+	1	0	SNRPA	45960775	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.516000	0.53436	1.284000	0.44531	0.655000	0.94253	CCC	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463118.2		+	ENST00000243563.3	Missense_Mutation	SNP	19 : 41268935 - 41268935 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	254	5
SPATA16	83893	broad.mit.edu	37	3	172643179	172643179	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:172643179T>G	ENST00000351008.3	-	7	1368	c.1185A>C	c.(1183-1185)aaA>aaC	p.K395N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	395					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTCCAAAAATTTTCCATCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	3		NA											NA				172643179		2203	4300	6503	SO:0001583	missense			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962	83893	83893			29935	protein-coding gene	gene with protein product		609856			NA	12529416, 17847006	Standard	NM_031955	NM_031955	NA	Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1185A>C	3.37:g.172643179T>G	ENSP00000341765:p.Lys395Asn	NA	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261858	0.59431	.	.	ENSG00000144962	ENST00000351008	T	0.24350	1.86	5.3	1.47	0.22746	.	0.075584	0.56097	D	0.000029	T	0.28234	0.0697	L	0.32530	0.975	0.27421	N	0.954285	D	0.54964	0.969	P	0.55455	0.776	T	0.09079	-1.0691	10	0.72032	D	0.01	-12.8705	8.3366	0.32219	0.0:0.2297:0.0:0.7703	.	395	Q9BXB7	SPT16_HUMAN	N	395	ENSP00000341765:K395N	ENSP00000341765:K395N	K	-	3	2	SPATA16	174125873	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	0.492000	0.22435	0.059000	0.16252	-0.371000	0.07208	AAA	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346322.1		-	ENST00000351008.3	Missense_Mutation	SNP	3 : 172643179 - 172643179 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	249	28
SUMO3	6612	broad.mit.edu	37	21	46229016	46229016	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46229016C>T	ENST00000397898.3	-	3	250	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.Q94Q|SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000332859.6_Silent_p.Q56Q			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	56	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		TGAATCTGATCTGCCTCATTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	102	114			NA	NA	21		NA											NA				46229016		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900	6612	6612			11124	protein-coding gene	gene with protein product		602231	SMT3 (suppressor of mif two 3, yeast) homolog 1, SMT3 suppressor of mif two 3 homolog 3 (yeast), SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)	SMT3H1	NA	9119407	Standard		NM_006936	NA	Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.168G>A	21.37:g.46229016C>T		NA	B2R5X4|Q53HI9|Q6FGD4|Q9BWR4	37																																																																																				SUMO3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000206561.1		-	ENST00000397898.3	Silent	SNP	21 : 46229016 - 46229016 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	298	35
TBC1D32	221322	broad.mit.edu	37	6	121544428	121544428	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:121544428G>T	ENST00000275159.6	-	21	2434	c.2435C>A	c.(2434-2436)cCt>cAt	p.P812H	TBC1D32_ENST00000398212.2_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32	NA											NA						TGTTTTATTAGGAAGATCTTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	6		NA											NA				121544428		1815	4079	5894	SO:0001583	missense			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350	221322	221322			21485	protein-coding gene	gene with protein product	broad-minded homolog	615867	chromosome 6 open reading frame 171, chromosome 6 open reading frame 170	C6orf171, C6orf170	NA	20159594, 24285566	Standard	NM_152730	NM_152730	NA	Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000275159.6:c.2435C>A	6.37:g.121544428G>T	ENSP00000275159:p.Pro812His	NA		37		.	.	.	.	.	.	.	.	.	.	G	18.11	3.550957	0.65311	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.29397	1.57;1.57	5.64	4.78	0.61160	.	0.204155	0.51477	D	0.000082	T	0.43010	0.1228	M	0.71581	2.175	0.49798	D	0.999829	D;D	0.89917	0.997;1.0	P;D	0.74348	0.847;0.983	T	0.48364	-0.9042	10	0.72032	D	0.01	.	11.9792	0.53111	0.0818:0.0:0.9182:0.0	.	812;812	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	812	ENSP00000275159:P812H;ENSP00000381270:P812H	ENSP00000275159:P812H	P	-	2	0	C6orf170	121586127	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.087000	0.50167	1.526000	0.49068	0.655000	0.94253	CCT	TBC1D32-003	PUTATIVE	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000042017.3		-	ENST00000275159.6	Missense_Mutation	SNP	6 : 121544428 - 121544428 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	281	31
TMEM245	23731	broad.mit.edu	37	9	111812948	111812948	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:111812948T>C	ENST00000374586.3	-	13	1910	c.1879A>G	c.(1879-1881)Atg>Gtg	p.M627V		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	627						integral to membrane					NA						TTCCGGCTCATAACGATCCAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	102	103			NA	NA	9		NA											NA				111812948		2006	4178	6184	SO:0001583	missense			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771	23731	23731			1363	protein-coding gene	gene with protein product			chromosome 9 open reading frame 5	C9orf5	NA	10564813	Standard	NM_032012	NM_032012	NA	Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1879A>G	9.37:g.111812948T>C	ENSP00000363714:p.Met627Val	NA	Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	37	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.89|12.89	2.072964|2.072964	0.36566|0.36566	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	T|.	0.39229|.	1.09|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30386|0.30386	0.0763|0.0763	N|N	0.01668|0.01668	-0.77|-0.77	0.51233|0.51233	D|D	0.999915|0.999915	D;D|.	0.59357|.	0.982;0.985|.	D;D|.	0.72338|.	0.961;0.977|.	T|T	0.36648|0.36648	-0.9739|-0.9739	10|5	0.10902|.	T|.	0.67|.	-33.0733|-33.0733	16.2141|16.2141	0.82191|0.82191	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	627;627|.	Q9H330-2;Q9H330|.	.;CI005_HUMAN|.	V|C	627|219	ENSP00000363714:M627V|.	ENSP00000223608:M627V|.	M|Y	-|-	1|2	0|0	C9orf5|C9orf5	110852769|110852769	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.888000|0.888000	0.51559|0.51559	6.262000|6.262000	0.72514|0.72514	2.224000|2.224000	0.72417|0.72417	0.528000|0.528000	0.53228|0.53228	ATG|TAT	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053587.2		-	ENST00000374586.3	Missense_Mutation	SNP	9 : 111812948 - 111812948 C PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	232	6
TNRC6B	23112	broad.mit.edu	37	22	40662850	40662850	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40662850C>T	ENST00000335727.9	+	5	2810	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	TNRC6B_ENST00000454349.2_Silent_p.P872P|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_015088.2	NP_055903.2	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	NA	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATGAGGAACCCAGTGGTTGGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	22		NA											NA				40662850		2109	4237	6346	SO:0001819	synonymous_variant			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354	23112	23112		Trinucleotide (CAG) repeat containing	29190	protein-coding gene	gene with protein product		610740			NA		Standard		NM_015088	NA	Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000335727.9:c.2616C>T	22.37:g.40662850C>T		NA	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	37	CCDS46713.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117318	0.20795	.	.	ENSG00000100354	ENST00000446273	T	0.24538	1.85	5.46	5.46	0.80206	.	0.052766	0.85682	D	0.000000	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16217	-1.0410	7	0.72032	D	0.01	-4.2812	6.4872	0.22095	0.3133:0.6:0.0:0.0866	.	.	.	.	L	615	ENSP00000409429:P615L	ENSP00000409429:P615L	P	+	2	0	TNRC6B	38992796	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	2.561000	0.86390	0.561000	0.74099	CCA	TNRC6B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321394.2		+	ENST00000335727.9	Silent	SNP	22 : 40662850 - 40662850 T PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	180	27
TRIM42	287015	broad.mit.edu	37	3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	213						intracellular	zinc ion binding	p.R213H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCACGGGCGTCTCACCAAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											74	73	73			NA	NA	3		NA											NA				140401600		2203	4300	6503	SO:0001583	missense			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890	287015	287015		Tripartite motif containing / Tripartite motif containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers	19014	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 40		tripartite motif-containing 42		NA		Standard	NM_152616	NM_152616	NA	Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.638G>A	3.37:g.140401600G>A	ENSP00000286349:p.Arg213His	NA	A1L4B4|Q8N832|Q8NDL3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215216	0.79352	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.117429	0.35349	N	0.003274	T	0.46347	0.1388	L	0.52905	1.665	0.30123	N	0.805474	D	0.71674	0.998	P	0.54140	0.743	T	0.45366	-0.9266	10	0.35671	T	0.21	-16.8257	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	213	Q8IWZ5	TRI42_HUMAN	H	213	ENSP00000286349:R213H	ENSP00000286349:R213H	R	+	2	0	TRIM42	141884290	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.158000	0.42329	2.435000	0.82474	0.561000	0.74099	CGT	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359531.2		+	ENST00000286349.3	Missense_Mutation	SNP	3 : 140401600 - 140401600 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	690	81
WSCD1	23302	broad.mit.edu	37	17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	rs148296936		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTCTCCGCCGAACACAGTTC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									GLN/ARG	0,4246		0,0,2123	41	40	40		41	4.8	1	17	dbSNP_134	40	2,8236		0,2,4117	yes	missense	WSCD1	NM_015253.1	43	0,2,6240	AA,AG,GG	NA	0.0243,0.0,0.016	probably-damaging	14/576	5984019	2,12482	2123	4119	6242	SO:0001583	missense				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314	23302	23302			29060	protein-coding gene	gene with protein product					NA		Standard	NM_015253	XM_005256572	NA	Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.41G>A	17.37:g.5984019G>A	ENSP00000460825:p.Arg14Gln	NA	A8K0N8|D3DTM3|O60276|Q96G45	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	g	31	5.082163	0.94050	0.0	2.43E-4	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000008	D	0.89550	0.6747	L	0.47190	1.495	0.36291	D	0.856398	D	0.89917	1.0	D	0.76575	0.988	D	0.92691	0.6166	10	0.87932	D	0	-12.0492	15.3569	0.74434	0.0:0.0:1.0:0.0	.	14	Q658N2	WSCD1_HUMAN	Q	14	ENSP00000323087:R14Q;ENSP00000446032:R14Q	ENSP00000323087:R14Q	R	+	2	0	WSCD1	5924743	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	6.190000	0.72057	2.203000	0.70933	0.552000	0.68991	CGA	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438965.4		+	ENST00000574946.1	Missense_Mutation	SNP	17 : 5984019 - 5984019 A PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	224	4
ZBP1	81030	broad.mit.edu	37	20	56186849	56186849	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:56186849T>G	ENST00000371173.3	-	6	985	c.808A>C	c.(808-810)Aat>Cat	p.N270H	ZBP1_ENST00000340462.4_Missense_Mutation_p.N247H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	270						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTCATCTCATTGCTGTGTCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	39			NA	NA	20		NA											NA				56186849		2203	4300	6503	SO:0001583	missense			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256	81030	81030			16176	protein-coding gene	gene with protein product	DNA-dependent activator of IRFs	606750	chromosome 20 open reading frame 183	C20orf183	NA	11842111	Standard	NM_030776	NM_030776	NA	Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.808A>C	20.37:g.56186849T>G	ENSP00000360215:p.Asn270His	NA	Q5JY39|Q9BYW4	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216027	0.39201	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.23348	2.29;1.91;2.29;2.26	3.25	2.09	0.27110	.	0.365705	0.19940	N	0.102675	T	0.38904	0.1058	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07233	-1.0783	10	0.87932	D	0	-23.1631	6.3696	0.21473	0.0:0.0:0.2548:0.7452	.	270;195;270	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	H	270;195;247;270;270	ENSP00000360215:N270H;ENSP00000379167:N195H;ENSP00000344954:N247H;ENSP00000340584:N270H	ENSP00000344954:N247H	N	-	1	0	ZBP1	55620255	0.552000	0.26505	0.002000	0.10522	0.036000	0.12997	1.422000	0.34826	0.592000	0.29728	0.454000	0.30748	AAT	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079849.1		-	ENST00000371173.3	Missense_Mutation	SNP	20 : 56186849 - 56186849 G PAAD-TCGA-FB-A5VM-Tumor-SM-4WPAW	159	21
