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
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					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						TTATTTAATGCCCTTCTCAGG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	7		NA											NA				48317894		1803	4069	5872	SO:0001583	missense			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.7103C>T	7.37:g.48317894C>T	ENSP00000411096:p.Ala2368Val	NA	Q6ZTT7|Q86WI2|Q8N248	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341964.2		+	ENST00000435803.1	Missense_Mutation	SNP	7 : 48317894 - 48317894 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	193	30
ACRBP	84519	broad.mit.edu	37	12	6753307	6753307	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:6753307C>T	ENST00000229243.2	-	5	1033	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S|ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	314						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTATACCTGCCAGGGTTTTGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	12		NA											NA				6753307		2203	4299	6502	SO:0001583	missense			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644	84519	84519			17195	protein-coding gene	gene with protein product	proacrosin binding protein sp32, cancer/testis antigen 23	608352			NA	11248070	Standard	NM_032489	NM_032489	NA	Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.940G>A	12.37:g.6753307C>T	ENSP00000229243:p.Gly314Ser	NA	Q9BY87	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612970	0.46631	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.44881	0.92;0.91	4.25	2.41	0.29592	.	0.596770	0.15767	N	0.245645	T	0.29914	0.0748	L	0.50919	1.6	0.21325	N	0.999725	P;P	0.37525	0.598;0.598	B;B	0.31614	0.133;0.133	T	0.14504	-1.0470	10	0.41790	T	0.15	.	5.855	0.18714	0.0:0.767:0.0:0.233	.	281;314	E7EP66;Q8NEB7	.;ACRBP_HUMAN	S	314;281;314	ENSP00000229243:G314S;ENSP00000402725:G281S	ENSP00000229243:G314S	G	-	1	0	ACRBP	6623568	0.505000	0.26131	0.620000	0.29132	0.535000	0.34838	0.691000	0.25467	1.135000	0.42183	0.561000	0.74099	GGC	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400703.1		-	ENST00000229243.2	Missense_Mutation	SNP	12 : 6753307 - 6753307 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	364	7
ACSL4	2182	broad.mit.edu	37	X	108906514	108906514	+	Missense_Mutation	SNP	T	T	C	rs148996116		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108906514T>C	ENST00000469796.2	-	13	2027	c.1631A>G	c.(1630-1632)gAt>gGt	p.D544G	ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G|ACSL4_ENST00000340800.2_Missense_Mutation_p.D544G			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	544					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TCCATTTTCATCCACAGAATA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(188;358 2127 38547 41466 45492)							NA				0								T	GLY/ASP,GLY/ASP	1,3834		0,1,1631,571	233	235	234		1508,1631	5.5	1	X	dbSNP_134	234	0,6728		0,0,2428,1872	no	missense,missense	ACSL4	NM_004458.2,NM_022977.2	94,94	0,1,4059,2443	CC,CT,TT,T	NA	0.0,0.0261,0.0095	probably-damaging,probably-damaging	503/671,544/712	108906514	1,10562	2203	4300	6503	SO:0001583	missense			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366	2182	2182		Acyl-CoA synthetase family	3571	protein-coding gene	gene with protein product	lignoceroyl-CoA synthase,  long-chain fatty-acid-Coenzyme A ligase 4	300157	fatty-acid-Coenzyme A ligase, long-chain 4, mental retardation, X-linked 63, mental retardation, X-linked 68	FACL4, MRX63, MRX68	NA	9480748, 12949969	Standard	NM_004458	NM_022977	NA	Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1631A>G	X.37:g.108906514T>C	ENSP00000419171:p.Asp544Gly	NA	D3DUY2|O60848|O60849	37	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608081	0.87258	2.61E-4	0.0	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.13420	2.59;2.59;2.59	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64525	-0.6387	10	0.87932	D	0	-21.9098	14.6742	0.68967	0.0:0.0:0.0:1.0	.	544	O60488	ACSL4_HUMAN	G	503;544;544	ENSP00000262835:D503G;ENSP00000419171:D544G;ENSP00000339787:D544G	ENSP00000339787:D544G	D	-	2	0	ACSL4	108793170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.035000	0.88872	1.846000	0.53633	0.486000	0.48141	GAT	ACSL4-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358155.2		-	ENST00000469796.2	Missense_Mutation	SNP	X : 108906514 - 108906514 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1304	18
ADAR	103	broad.mit.edu	37	1	154569625	154569625	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:154569625T>C	ENST00000368474.4	-	5	2252	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	ADAR_ENST00000292205.5_Missense_Mutation_p.T728A|ADAR_ENST00000368471.3_Missense_Mutation_p.T390A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	685					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGGAGTTGGTCGCCTCCCCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	65	66			NA	NA	1		NA											NA				154569625		2203	4300	6503	SO:0001583	missense			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	103	103	3.5.4.-		225	protein-coding gene	gene with protein product		146920	interferon-induced protein 4	IFI4, G1P1	NA	7972084	Standard	NM_001111	NM_001111	NA	Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2053A>G	1.37:g.154569625T>C	ENSP00000357459:p.Thr685Ala	NA	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.14022	2.74;2.75;2.54;2.76	5.43	-3.95	0.04118	.	0.826008	0.10923	N	0.619176	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.47837	-0.9086	10	0.06625	T	0.88	-5.3793	9.0032	0.36094	0.1254:0.5779:0.0:0.2967	.	685;685;685	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	728;685;390;680	ENSP00000292205:T728A;ENSP00000357459:T685A;ENSP00000357456:T390A;ENSP00000431794:T680A	ENSP00000292205:T728A	T	-	1	0	ADAR	152836249	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	0.036000	0.13819	-0.609000	0.05724	0.533000	0.62120	ACC	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090691.2		-	ENST00000368474.4	Missense_Mutation	SNP	1 : 154569625 - 154569625 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	326	6
ANGEL2	90806	broad.mit.edu	37	1	213178772	213178772	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213178772C>A	ENST00000366962.3	-	5	891	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246								p.R246L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTTCCTGTCCGCATCTTATA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											96	102	100			NA	NA	1		NA											NA				213178772		2195	4299	6494	SO:0001583	missense			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606	90806	90806			30534	protein-coding gene	gene with protein product					NA	11943475	Standard	NM_144567	XM_005273344	NA	Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.737G>T	1.37:g.213178772C>A	ENSP00000355929:p.Arg246Leu	NA	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	37	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606850	0.87157	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95622	-3.76;-3.16;-3.16;-3.76;-3.16	5.45	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.98137	0.9385	M	0.93420	3.415	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.77557	0.959;0.99	D	0.99007	1.0813	10	0.87932	D	0	-10.8417	13.6511	0.62312	0.0:0.9244:0.0:0.0756	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	L	246;77;77;120;77	ENSP00000355929:R246L;ENSP00000353696:R77L;ENSP00000443193:R77L;ENSP00000446124:R120L;ENSP00000438141:R77L	ENSP00000353696:R77L	R	-	2	0	ANGEL2	211245395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.604000	0.67626	1.398000	0.46701	0.650000	0.86243	CGG	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089693.1		-	ENST00000366962.3	Missense_Mutation	SNP	1 : 213178772 - 213178772 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	586	9
ANKRD2	26287	broad.mit.edu	37	10	99338074	99338074	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:99338074C>A	ENST00000370655.1	+	3	557	c.267C>A	c.(265-267)atC>atA	p.I89I	ANKRD2_ENST00000298808.5_Silent_p.I116I|ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000307518.5_Silent_p.I116I	NM_020349.2	NP_065082.2	Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	116					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		AGAACCTCATCGAGCTGCGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	31	31			NA	NA	10		NA											NA				99338074		2203	4300	6503	SO:0001819	synonymous_variant			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887	26287	26287		Ankyrin repeat domain containing	495	protein-coding gene	gene with protein product		610734			NA	10873377, 15136035, 15677738	Standard		NM_001129981	NA	Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000370655.1:c.267C>A	10.37:g.99338074C>A		NA	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	37																																																																																				ANKRD2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049728.1		+	ENST00000370655.1	Silent	SNP	10 : 99338074 - 99338074 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	213	48
ANLN	54443	broad.mit.edu	37	7	36489379	36489379	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:36489379C>A	ENST00000265748.2	+	23	3405	c.3184C>A	c.(3184-3186)Cga>Aga	p.R1062R	ANLN_ENST00000396068.2_Silent_p.R1025R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AATTACTGTCCGACCACAAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	92	93			NA	NA	7		NA											NA				36489379		2203	4300	6503	SO:0001819	synonymous_variant			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426	54443	54443		Pleckstrin homology (PH) domain containing	14082	protein-coding gene	gene with protein product			anillin (Drosophila Scraps homolog), actin binding protein, anillin, actin binding protein (scraps homolog, Drosophila)		NA	10931866	Standard	NM_018685	NM_001284301	NA	Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3184C>A	7.37:g.36489379C>A		NA	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348424	0.24426	.	.	ENSG00000011426	ENST00000428612	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.74596	0.3737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73065	-0.4100	4	.	.	.	-10.8384	18.3032	0.90171	0.0:1.0:0.0:0.0	.	.	.	.	Q	226	.	.	P	+	2	0	ANLN	36455904	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	1.405000	0.34635	2.577000	0.86979	0.655000	0.94253	CCG	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218582.3		+	ENST00000265748.2	Silent	SNP	7 : 36489379 - 36489379 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	565	7
APRT	353	broad.mit.edu	37	16	88877975	88877975	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:88877975C>T	ENST00000378364.3	-	2	214	c.170G>A	c.(169-171)cGc>cAc	p.R57H	APRT_ENST00000426324.2_Missense_Mutation_p.R57H|APRT_ENST00000563655.1_Missense_Mutation_p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	57					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTAGTCGATGCGGCCCCCGTG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	8	8			NA	NA	16		NA											NA				88877975		2116	4182	6298	SO:0001583	missense				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	353	353	2.4.2.7		626	protein-coding gene	gene with protein product		102600			NA		Standard	NM_000485	NM_000485	NA	Approved		uc002flv.3	P07741		ENST00000378364.3:c.170G>A	16.37:g.88877975C>T	ENSP00000367615:p.Arg57His	NA	Q3KP55|Q68DF9	37	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610499	0.46527	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99369	-3.3;-5.78	4.63	-0.359	0.12571	Phosphoribosyltransferase (1);	0.950123	0.08812	N	0.890115	D	0.95510	0.8541	N	0.03891	-0.335	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	D	0.90882	0.4754	10	0.72032	D	0.01	-3.3317	9.307	0.37881	0.0:0.5341:0.0:0.4659	.	57;57	G5E9J2;P07741	.;APT_HUMAN	H	57	ENSP00000367615:R57H;ENSP00000397007:R57H	ENSP00000367615:R57H	R	-	2	0	APRT	87405476	0.001000	0.12720	0.026000	0.17262	0.926000	0.56050	0.200000	0.17257	-0.387000	0.07809	0.313000	0.20887	CGC	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430000.2		-	ENST00000378364.3	Missense_Mutation	SNP	16 : 88877975 - 88877975 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	50	4
ARHGAP36	158763	broad.mit.edu	37	X	130215846	130215846	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:130215846C>A	ENST00000370922.1	+	2	201	c.171C>A	c.(169-171)caC>caA	p.H57Q	ARHGAP36_ENST00000276211.5_Missense_Mutation_p.H69Q	NM_001282607.1	NP_001269536.1	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	69					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTTACCACGAACTCGTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	98	103			NA	NA	X		NA											NA				130215846		2203	4300	6503	SO:0001583	missense				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256	158763	158763		Rho GTPase activating proteins	26388	protein-coding gene	gene with protein product					NA		Standard	NM_144967	NM_144967	NA	Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000370922.1:c.171C>A	X.37:g.130215846C>A	ENSP00000359960:p.His57Gln	NA	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	37		.	.	.	.	.	.	.	.	.	.	C	10.74	1.436770	0.25900	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.09255	3.0;3.0;3.01	4.36	-2.17	0.07059	.	0.475884	0.18258	N	0.146730	T	0.04363	0.0120	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.44050	-0.9353	10	0.22706	T	0.39	.	1.0036	0.01482	0.4372:0.2288:0.1417:0.1922	.	38;57;69	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	69;57;21;38	ENSP00000276211:H69Q;ENSP00000359960:H57Q;ENSP00000408515:H38Q	ENSP00000276211:H69Q	H	+	3	2	ARHGAP36	130043527	0.778000	0.28640	0.937000	0.37676	0.976000	0.68499	-0.888000	0.04148	-0.670000	0.05282	-0.268000	0.10319	CAC	ARHGAP36-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000058279.1		+	ENST00000370922.1	Missense_Mutation	SNP	X : 130215846 - 130215846 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	733	40
ARHGEF15	22899	broad.mit.edu	37	17	8216367	8216367	+	Silent	SNP	G	G	A	rs150417950		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	17		NA											NA				8216367		2203	4299	6502	SO:0001819	synonymous_variant			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844	22899	22899		Rho guanine nucleotide exchange factors	15590	protein-coding gene	gene with protein product	Rho guanine exchange factor (GEF) 15	608504			NA	10048485	Standard	NM_173728	NM_173728	NA	Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.729G>A	17.37:g.8216367G>A		NA	A8K6G1|Q8N449|Q9H8B4	37	CCDS11139.1																																																																																			ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226993.2		+	ENST00000361926.3	Silent	SNP	17 : 8216367 - 8216367 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	269	12
ARID1A	8289	broad.mit.edu	37	1	27099950	27099950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:27099950C>T	ENST00000457599.2	+	15	3829	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ARID1A_ENST00000324856.7_Nonsense_Mutation_p.Q1277*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1277					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGACCACGACAGCACTATCC	0.602		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Deletion - Frameshift(2)|Complex(1)	liver(3)											73	65	67			NA	NA	1		NA											NA				27099950		2203	4300	6503	SO:0001587	stop_gained			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.3829C>T	1.37:g.27099950C>T	ENSP00000387636:p.Gln1277*	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.172493|9.172493	0.99089|0.99089	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.053822|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73938	.|0.3651	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72997	.|-0.4121	.|4	0.09843|.	T|.	0.71|.	-1.2962|-1.2962	18.2413|18.2413	0.89968|0.89968	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1277;1277;894|173	.|.	ENSP00000320485:Q1277X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26972537|26972537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.231000|7.231000	0.78106|0.78106	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CAG|ACA	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Nonsense_Mutation	SNP	1 : 27099950 - 27099950 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	118	48
ASS1	445	broad.mit.edu	37	9	133355188	133355188	+	Splice_Site	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:133355188G>A	ENST00000372394.1	+	11	1254		c.e11+1		ASS1_ENST00000372393.3_Splice_Site|ASS1_ENST00000352480.5_Splice_Site|ASS1_ENST00000493984.2_Splice_Site			P00966	ASSY_HUMAN	argininosuccinate synthase 1	NA					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACGAAGTCGCGTGAGTGTCTG	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	9		NA											NA				133355188		2203	4300	6503	SO:0001630	splice_region_variant			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	445	445	6.3.4.5		758	protein-coding gene	gene with protein product		603470	argininosuccinate synthetase	ASS	NA	3513483, 852520	Standard	NM_000050	NM_054012	NA	Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.773+1G>A	9.37:g.133355188G>A		NA	Q6LDL2|Q86UZ0|Q96GT4	37	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686809	0.14973	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0774	0.86590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASS1	132345009	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	8.569000	0.90744	2.270000	0.75569	0.467000	0.42956	.	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054652.1	Intron	+	ENST00000372394.1	Splice_Site	SNP	9 : 133355188 - 133355188 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	210	16
ATP7B	540	broad.mit.edu	37	13	52585461	52585461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52585461C>A	ENST00000242839.4	-	1	169	c.13G>T	c.(13-15)Gag>Tag	p.E5*	ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATCTGTCTCTCCTGCTCAGGC	0.592		NA							Wilson disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	84	79			NA	NA	13		NA											NA				52585461		2054	4209	6263	SO:0001587	stop_gained	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	540	540	3.6.3.4	ATPases / P-type	870	protein-coding gene	gene with protein product	Wilson disease, copper pump 2, copper-transporting ATPase 2	606882	ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	WND	NA	8298641, 8298639	Standard	NM_000053	NM_000053	NA	Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.13G>T	13.37:g.52585461C>A	ENSP00000242839:p.Glu5*	NA	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225575	0.79576	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	3.89	1.0	0.19881	.	0.976046	0.08296	U	0.967727	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.074	2.4796	0.04584	0.1932:0.5103:0.1876:0.1088	.	.	.	.	X	5	.	ENSP00000242839:E5X	E	-	1	0	ATP7B	51483462	0.002000	0.14202	0.001000	0.08648	0.037000	0.13140	0.524000	0.22940	0.051000	0.15978	-0.378000	0.06908	GAG	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045981.1		-	ENST00000242839.4	Nonsense_Mutation	SNP	13 : 52585461 - 52585461 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	338	71
ATRNL1	26033	broad.mit.edu	37	10	117226743	117226743	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:117226743G>A	ENST00000355044.3	+	23	3603	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ATRNL1_ENST00000423111.2_Silent_p.T210T|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAACATTACGTGGTCTGTCG	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	127			NA	NA	10		NA											NA				117226743		2202	4296	6498	SO:0001819	synonymous_variant			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518	26033	26033			29063	protein-coding gene	gene with protein product		612869			NA	9628581	Standard	XM_049349	NM_001276282	NA	Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3477G>A	10.37:g.117226743G>A		NA	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	37	CCDS7592.1																																																																																			ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050507.3		+	ENST00000355044.3	Silent	SNP	10 : 117226743 - 117226743 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	399	23
BCOR	54880	broad.mit.edu	37	X	39922163	39922163	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39922163C>T	ENST00000342274.4	-	9	4269	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000378463.1_Missense_Mutation_p.E180K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1337K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532		NA	F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0								C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3833		0,0,0,1631,571	141	112	121		3907,3853,4009,3907	5.7	0.3	X		121	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	56,56,56,56	0,0,1,4059,2442	TT,TC,T,CC,C	NA	0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/1722,1285/1704,1337/1756,1303/1722	39922163	1,10560	2202	4300	6502	SO:0001583	missense			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337	54880	54880		Ankyrin repeat domain containing	20893	protein-coding gene	gene with protein product		300485	BCL6 co-repressor		NA	10898795	Standard	NM_017745	NM_017745	NA	Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000342274.4:c.3907G>A	X.37:g.39922163C>T	ENSP00000345923:p.Glu1303Lys	NA	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	37	CCDS14250.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518746	0.85495	0.0	1.49E-4	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.70516	-0.42;0.97;1.0;0.98;0.93;0.98;-0.49	5.67	5.67	0.87782	.	.	.	.	.	T	0.75845	0.3905	N	0.19112	0.55	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.78314	0.951;0.991;0.896	T	0.78889	-0.2026	9	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1285;1337;1303	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	207;180;1285;1303;1337;1303;10	ENSP00000408006:E207K;ENSP00000367724:E180K;ENSP00000367716:E1285K;ENSP00000380512:E1303K;ENSP00000367705:E1337K;ENSP00000345923:E1303K;ENSP00000387552:E10K	ENSP00000345923:E1303K	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA	BCOR-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060670.1		-	ENST00000342274.4	Missense_Mutation	SNP	X : 39922163 - 39922163 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	153	10
BLM	641	broad.mit.edu	37	15	91303899	91303899	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:91303899T>C	ENST00000560509.1	+	7	1347	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	BLM_ENST00000355112.3_Silent_p.P432P			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	432					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATACAGGCCTGATTCACTTG	0.418		NA	Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0													121	122	122			NA	NA	15		NA											NA				91303899		2198	4298	6496	SO:0001819	synonymous_variant	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299	641	641			1058	protein-coding gene	gene with protein product		604610	Bloom syndrome		NA	9388193	Standard		NM_000057	NA	Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000560509.1:c.1296T>C	15.37:g.91303899T>C		NA	Q52M96	37																																																																																				BLM-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417940.1		+	ENST00000560509.1	Silent	SNP	15 : 91303899 - 91303899 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	856	7
BMP1	649	broad.mit.edu	37	8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:22054897G>A	ENST00000306385.5	+	15	2741	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.V691M|BMP1_ENST00000306349.8_Missense_Mutation_p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGACAACACCGTGTCCAAAAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL	0,4406		0,0,2203	236	214	222		2071,2071	5.3	1	8		222	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BMP1	NM_001199.3,NM_006129.4	21,21	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	691/731,691/987	22054897	1,13005	2203	4300	6503	SO:0001583	missense				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2071G>A	8.37:g.22054897G>A	ENSP00000305714:p.Val691Met	NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895680	0.91962	0.0	1.16E-4	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.30981	1.51;1.51;1.51	5.29	5.29	0.74685	CUB (5);	0.000000	0.34853	U	0.003625	T	0.58836	0.2150	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.993	T	0.63346	-0.6658	10	0.72032	D	0.01	.	17.6986	0.88289	0.0:0.0:1.0:0.0	.	691;764;691;691	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	M	691	ENSP00000305714:V691M;ENSP00000380917:V691M;ENSP00000306121:V691M	ENSP00000306121:V691M	V	+	1	0	BMP1	22110842	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.451000	0.82905	0.563000	0.77884	GTG	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Missense_Mutation	SNP	8 : 22054897 - 22054897 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	673	22
BSND	7809	broad.mit.edu	37	1	55470697	55470697	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:55470697C>T	ENST00000371265.4	+	2	434	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	60						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTTGCAGATCACCTTCGTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(191;1657 2078 22894 42033 48899)							NA				0													114	94	101			NA	NA	1		NA											NA				55470697		2203	4300	6503	SO:0001819	synonymous_variant			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399	7809	7809			16512	protein-coding gene	gene with protein product		606412	deafness, autosomal recessive 73, Bartter syndrome, infantile, with sensorineural deafness (Barttin)	DFNB73	NA	11687798, 11734858, 19646679	Standard	NM_057176	NM_057176	NA	Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.180C>T	1.37:g.55470697C>T		NA	Q6NT28	37	CCDS602.1																																																																																			BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022213.4		+	ENST00000371265.4	Silent	SNP	1 : 55470697 - 55470697 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	158	64
CACNA1D	776	broad.mit.edu	37	3	53736723	53736723	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:53736723C>T	ENST00000422281.2	+	9	1276	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R426W|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R426W	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	426					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCAGAAGCTCCGGGAGAAGCA	0.512		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	3		NA											NA				53736723		2203	4300	6503	SO:0001583	missense			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.1276C>T	3.37:g.53736723C>T	ENSP00000409174:p.Arg426Trp	NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706827	0.89018	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.39	5.39	0.77823	.	0.075737	0.53938	D	0.000056	D	0.98473	0.9491	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.999;0.999	D	0.99007	1.0813	10	0.87932	D	0	.	14.2225	0.65836	0.149:0.8509:0.0:0.0	.	426;99;426;426	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	W	426;426;426;99	ENSP00000288133:R426W;ENSP00000288139:R426W;ENSP00000409174:R426W;ENSP00000418014:R99W	ENSP00000288139:R426W	R	+	1	2	CACNA1D	53711763	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.818000	0.69236	2.804000	0.96469	0.655000	0.94253	CGG	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1		+	ENST00000422281.2	Missense_Mutation	SNP	3 : 53736723 - 53736723 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	188	5
CAPN6	827	broad.mit.edu	37	X	110494274	110494274	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110494274C>A	ENST00000324068.1	-	8	1196	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	CAPN6_ENST00000541758.1_Silent_p.V88V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	343	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAGGGTTGTTCACATTGCGGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													330	294	306			NA	NA	X		NA											NA				110494274		2203	4300	6503	SO:0001819	synonymous_variant			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274	827	827			1483	protein-coding gene	gene with protein product		300146			NA	9503024, 9339374	Standard		NM_014289	NA	Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1029G>T	X.37:g.110494274C>A		NA	D3DUY7|Q9UEQ1|Q9UJA8	37	CCDS14555.1																																																																																			CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057922.1		-	ENST00000324068.1	Silent	SNP	X : 110494274 - 110494274 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1732	13
CCDC178	374864	broad.mit.edu	37	18	30846964	30846964	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:30846964A>G	ENST00000383096.3	-	14	1507	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178	NA											NA						TGCCAAAGAAATAGCTGAAAA	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	18		NA											NA				30846964		2203	4289	6492	SO:0001583	missense			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960	374864	374864			29588	protein-coding gene	gene with protein product			chromosome 18 open reading frame 34	C18orf34	NA		Standard	NM_198995	NM_198995	NA	Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1325T>C	18.37:g.30846964A>G	ENSP00000372576:p.Ile442Thr	NA		37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237027	0.10023	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	4.16	4.16	0.48862	.	.	.	.	.	T	0.39332	0.1074	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.46784	0.884;0.884;0.884;0.884	P;P;P;P	0.48677	0.503;0.586;0.509;0.586	T	0.13072	-1.0523	9	0.30078	T	0.28	0.483	9.8834	0.41247	1.0:0.0:0.0:0.0	.	442;442;442;442	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	T	442	ENSP00000385591:I442T;ENSP00000372576:I442T;ENSP00000300227:I442T;ENSP00000385867:I442T;ENSP00000385234:I442T	ENSP00000300227:I442T	I	-	2	0	C18orf34	29100962	0.109000	0.22037	0.005000	0.12908	0.004000	0.04260	3.359000	0.52292	2.101000	0.63845	0.377000	0.23210	ATT	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255373.2		-	ENST00000383096.3	Missense_Mutation	SNP	18 : 30846964 - 30846964 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	440	30
CCT8L2	150160	broad.mit.edu	37	22	17072527	17072527	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:17072527G>T	ENST00000359963.3	-	1	1173	c.914C>A	c.(913-915)aCa>aAa	p.T305K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	305					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCGCCAGTGTGAGGGTCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	172	179			NA	NA	22		NA											NA				17072527		2203	4300	6503	SO:0001583	missense			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445	150160	150160			15553	protein-coding gene	gene with protein product					NA		Standard		NM_014406	NA	Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.914C>A	22.37:g.17072527G>T	ENSP00000353048:p.Thr305Lys	NA	A4QPH3|Q9UJS3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	6.540	0.467967	0.12402	.	.	ENSG00000198445	ENST00000359963	T	0.74526	-0.85	1.98	-1.43	0.08884	.	1.219940	0.06186	U	0.680487	T	0.64327	0.2588	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.53954	-0.8365	10	0.87932	D	0	-0.7241	5.2737	0.15638	0.5034:0.0:0.4966:0.0	.	305	Q96SF2	TCPQM_HUMAN	K	305	ENSP00000353048:T305K	ENSP00000353048:T305K	T	-	2	0	CCT8L2	15452527	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.513000	0.06305	-0.295000	0.08960	-1.325000	0.01285	ACA	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280580.1		-	ENST00000359963.3	Missense_Mutation	SNP	22 : 17072527 - 17072527 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	475	9
CFHR1	3078	broad.mit.edu	37	1	196797211	196797211	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:196797211G>T	ENST00000320493.5	+	4	530	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	148	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACTTCCTGTGTGAATCCGCC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	73	67			NA	NA	1		NA											NA				196797211		1827	4114	5941	SO:0001583	missense			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414	3078	3078		Complement system	4888	protein-coding gene	gene with protein product		134371	H factor (complement)-like 1, complement factor H-related 1 pseudogene, H factor (complement)-like 2	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P	NA	1711047, 1826708	Standard	NM_002113	NM_002113	NA	Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.442G>T	1.37:g.196797211G>T	ENSP00000314299:p.Val148Leu	NA	A8K465|Q3B774|Q9UJ17	37	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	6.008	0.369878	0.11352	.	.	ENSG00000244414	ENST00000320493	T	0.64260	-0.09	2.89	1.95	0.26073	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55561	0.1928	L	0.37466	1.105	0.80722	D	1	B;D	0.54047	0.387;0.964	B;P	0.52554	0.326;0.702	T	0.47995	-0.9073	9	0.28530	T	0.3	.	6.0102	0.19571	0.1541:0.0:0.8459:0.0	.	148;1049	Q03591;A8K5T0	FHR1_HUMAN;.	L	148	ENSP00000314299:V148L	ENSP00000314299:V148L	V	+	1	0	CFHR1	195063834	0.321000	0.24625	0.995000	0.50966	0.022000	0.10575	0.327000	0.19663	0.520000	0.28426	0.398000	0.26397	GTG	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088251.2		+	ENST00000320493.5	Missense_Mutation	SNP	1 : 196797211 - 196797211 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	578	8
CHD6	84181	broad.mit.edu	37	20	40033309	40033309	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:40033309G>A	ENST00000373233.3	-	37	8249	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2691					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCGGGCAAAGGGGCACTGGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	119	116			NA	NA	20		NA											NA				40033309		2203	4300	6503	SO:0001583	missense			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8072C>T	20.37:g.40033309G>A	ENSP00000362330:p.Pro2691Leu	NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	0.782	-0.762079	0.02996	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.99	-1.45	0.08828	.	0.799456	0.11164	N	0.592701	T	0.68329	0.2989	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51872	-0.8650	10	0.20519	T	0.43	0.3624	7.7246	0.28753	0.1983:0.0893:0.6218:0.0906	.	2691	Q8TD26	CHD6_HUMAN	L	2691	ENSP00000362330:P2691L	ENSP00000362330:P2691L	P	-	2	0	CHD6	39466723	0.115000	0.22152	0.002000	0.10522	0.007000	0.05969	2.706000	0.47135	-0.113000	0.11958	-1.004000	0.02495	CCT	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Missense_Mutation	SNP	20 : 40033309 - 40033309 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	585	5
CLCNKA	1187	broad.mit.edu	37	1	16353850	16353850	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:16353850G>A	ENST00000375692.1	+	9	829	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	CLCNKA_ENST00000331433.4_Missense_Mutation_p.R234Q|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	234					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTCTCTGTCCGGGATTACTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	99	98			NA	NA	1		NA											NA				16353850		2203	4300	6503	SO:0001583	missense				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510	NA	1187		Ion channels / Chloride channels : Voltage-sensitive	2026	protein-coding gene	gene with protein product		602024	chloride channel Ka		NA	8544406	Standard		NM_004070	NA	Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000375692.1:c.701G>A	1.37:g.16353850G>A	ENSP00000364844:p.Arg234Gln	NA	Q5T5P8|Q7Z6D1|Q86VT1	37	CCDS41269.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397759	0.62177	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	3.02	3.02	0.34903	Chloride channel, core (2);	0.189554	0.45606	D	0.000349	D	0.94212	0.8142	M	0.68728	2.09	0.28863	N	0.895394	B;P;B	0.39480	0.364;0.675;0.364	B;P;B	0.46026	0.342;0.501;0.342	D	0.90856	0.4735	10	0.51188	T	0.08	.	13.4842	0.61355	0.0:0.0:1.0:0.0	.	191;234;234	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	Q	234;234;191;234	ENSP00000364844:R234Q;ENSP00000410353:R234Q;ENSP00000414445:R191Q;ENSP00000332771:R234Q	ENSP00000332771:R234Q	R	+	2	0	CLCNKA	16226437	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.291000	0.65667	1.674000	0.50907	0.313000	0.20887	CGG	CLCNKA-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026327.1		+	ENST00000375692.1	Missense_Mutation	SNP	1 : 16353850 - 16353850 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	590	12
COL11A1	1301	broad.mit.edu	37	1	103427802	103427802	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:103427802C>G	ENST00000370096.3	-	40	3356	c.3044G>C	c.(3043-3045)gGt>gCt	p.G1015A	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1027A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1015	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCTGAGATACCTTGAGGACC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	87	87			NA	NA	1		NA											NA				103427802		2203	4300	6503	SO:0001583	missense			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718	1301	1301		Collagens	2186	protein-coding gene	gene with protein product	collagen XI, alpha-1 polypeptide	120280		COLL6	NA	3182841	Standard	NM_080630	NM_080630	NA	Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3044G>C	1.37:g.103427802C>G	ENSP00000359114:p.Gly1015Ala	NA	B1ASK7|D3DT73|Q14034|Q9UIT4|Q9UIT5|Q9UIT6	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822094	0.71028	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.37	5.37	0.77165	.	0.061018	0.64402	D	0.000003	D	0.99753	0.9901	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.997;0.998;0.998;0.995;0.994	D	0.97603	1.0124	10	0.59425	D	0.04	.	19.1062	0.93296	0.0:1.0:0.0:0.0	.	899;976;1027;1015;235	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1015;1027;976;235;899	ENSP00000359114:G1015A;ENSP00000351163:G1027A;ENSP00000302551:G976A;ENSP00000426533:G899A	ENSP00000302551:G976A	G	-	2	0	COL11A1	103200390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	2.509000	0.84616	0.557000	0.71058	GGT	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029997.1		-	ENST00000370096.3	Missense_Mutation	SNP	1 : 103427802 - 103427802 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	399	122
COL1A2	1278	broad.mit.edu	37	7	94039063	94039063	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:94039063G>A	ENST00000297268.6	+	19	1436	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	322					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCTCCCGGCCTCCCTGGA	0.577		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	7		NA											NA				94039063		2203	4300	6503	SO:0001583	missense			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.965G>A	7.37:g.94039063G>A	ENSP00000297268:p.Gly322Asp	NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335985	0.81801	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97235	0.9887	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	322	P08123	CO1A2_HUMAN	D	322;323	ENSP00000297268:G322D	ENSP00000297268:G322D	G	+	2	0	COL1A2	93876999	1.000000	0.71417	0.985000	0.45067	0.772000	0.43724	9.439000	0.97543	2.802000	0.96397	0.655000	0.94253	GGC	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2		+	ENST00000297268.6	Missense_Mutation	SNP	7 : 94039063 - 94039063 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	382	30
COL4A1	1282	broad.mit.edu	37	13	110857736	110857736	+	Silent	SNP	G	G	A	rs138809869		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	307	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	91	103	99		921	-10.1	0	13	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL4A1	NM_001845.4		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		307/1670	110857736	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498	1282	1282		Collagens	2202	protein-coding gene	gene with protein product		120130			NA	3691802	Standard		NM_001845	NA	Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.921C>T	13.37:g.110857736G>A		NA	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	37	CCDS9511.1																																																																																			COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045759.3		-	ENST00000375820.4	Silent	SNP	13 : 110857736 - 110857736 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	470	108
CR1	1378	broad.mit.edu	37	1	207785308	207785308	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207785308G>A	ENST00000367049.4	+	39	6497	c.6497G>A	c.(6496-6498)gGc>gAc	p.G2166D	CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D|CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000367051.1_Missense_Mutation_p.G1716D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1716					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACTTCCTGGGCCAACTCCCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													273	262	266			NA	NA	1		NA											NA				207785308		1936	4132	6068	SO:0001583	missense			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710	1378	1378		CD molecules, Blood group antigens, Complement system	2334	protein-coding gene	gene with protein product		120620	complement component (3b/4b) receptor 1, including Knops blood group system		NA	1708809	Standard	NM_000573	XM_005273064	NA	Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6497G>A	1.37:g.207785308G>A	ENSP00000356016:p.Gly2166Asp	NA	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958684	0.00465	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	3.21	-1.18	0.09617	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.16300	0.0392	L	0.31120	0.905	0.09310	N	1	B;B	0.28713	0.002;0.22	B;B	0.32762	0.006;0.152	T	0.36696	-0.9737	9	0.20519	T	0.43	.	6.8921	0.24234	0.7728:0.0:0.2272:0.0	.	1716;2166	P17927;E9PDY4	CR1_HUMAN;.	D	1716;1716;1716;1716;2166	ENSP00000356019:G1716D;ENSP00000356018:G1716D;ENSP00000356020:G1716D;ENSP00000383744:G1716D;ENSP00000356016:G2166D	ENSP00000356016:G2166D	G	+	2	0	CR1	205851931	0.000000	0.05858	0.000000	0.03702	0.600000	0.36913	0.102000	0.15272	-0.240000	0.09696	0.511000	0.50034	GGC	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382527.1		+	ENST00000367049.4	Missense_Mutation	SNP	1 : 207785308 - 207785308 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1373	9
CTNND2	1501	broad.mit.edu	37	5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:11364949G>A	ENST00000304623.8	-	8	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAGGGCCCGCAACTCTGGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	54	52			NA	NA	5		NA											NA				11364949		2203	4300	6503	SO:0001583	missense			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862	1501	1501		Armadillo repeat containing	2516	protein-coding gene	gene with protein product	neural plakophilin-related arm-repeat protein	604275	catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)		NA	9342840, 9223106	Standard	NM_001332	XM_005248251	NA	Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1231C>T	5.37:g.11364949G>A	ENSP00000307134:p.Arg411Trp	NA	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504805	0.85176	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	D;D;D;T	0.83419	-1.6;-1.72;-1.6;-1.41	5.47	4.52	0.55395	.	0.000000	0.64402	D	0.000019	D	0.88097	0.6345	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.88375	0.2997	10	0.87932	D	0	-20.37	10.9741	0.47456	0.0:0.0:0.5842:0.4157	.	74;411	B4DRK2;Q9UQB3	.;CTND2_HUMAN	W	411;411;320;74;151	ENSP00000307134:R411W;ENSP00000352661:R411W;ENSP00000426510:R320W;ENSP00000426887:R74W	ENSP00000307134:R411W	R	-	1	2	CTNND2	11417949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.008000	0.49544	2.581000	0.87130	0.655000	0.94253	CGG	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206999.1		-	ENST00000304623.8	Missense_Mutation	SNP	5 : 11364949 - 11364949 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	155	32
CXCR6	10663	broad.mit.edu	37	3	45988477	45988477	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:45988477C>A	ENST00000458629.1	+	1	1967	c.504C>A	c.(502-504)atC>atA	p.I168I	FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.I168I|CXCR6_ENST00000438735.1_Silent_p.I168I|CXCR6_ENST00000457814.1_Silent_p.I168I			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	168					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAAATTATCTATGGCAATG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(63;1005 1117 15521 45762 47089)							NA				0													114	108	110			NA	NA	3		NA											NA				45988477		2203	4300	6503	SO:0001819	synonymous_variant			AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215	10663	10663		CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif	16647	protein-coding gene	gene with protein product		605163			NA	9166430, 9230441	Standard		XM_005264809	NA	Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.504C>A	3.37:g.45988477C>A		NA	O00575|Q9HCA5	37	CCDS2735.1																																																																																			CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344395.1		+	ENST00000458629.1	Silent	SNP	3 : 45988477 - 45988477 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	359	8
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:143957228G>A	ENST00000377675.3	-	8	1240	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CYP11B1_ENST00000292427.4_Missense_Mutation_p.R341C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCTCCTGGCGCAGGGCCTGC	0.642		NA							Familial Hyperaldosteronism type I					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	HM972176	CYP11B1	M		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	78	80	79		1021,1021	2.2	1	8		79	1,8599		0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	180,180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/504,341/438	143957228	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	NA	1584	1.14.15.4	Cytochrome P450s	2591	protein-coding gene	gene with protein product	steroid 11-beta-monooxygenase	610613	cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1	CYP11B	NA	1303253	Standard		XM_005250807	NA	Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000377675.3:c.1234C>T	8.37:g.143957228G>A	ENSP00000366903:p.Arg412Cys	NA	Q14095|Q4VAQ8|Q9UML2	37		.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC	CYP11B1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379655.1		-	ENST00000377675.3	Missense_Mutation	SNP	8 : 143957228 - 143957228 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	670	52
DDB1	1642	broad.mit.edu	37	11	61083828	61083828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:61083828C>A	ENST00000301764.7	-	12	1736	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	447	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATCAGTTCGGTTTCTTCT	0.517		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	180	185			NA	NA	11		NA											NA				61083828		2203	4299	6502	SO:0001587	stop_gained			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1339G>T	11.37:g.61083828C>A	ENSP00000301764:p.Glu447*	NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.381356	0.99155	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739;ENST00000535174	.	.	.	5.35	5.35	0.76521	.	0.046308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-16.5751	19.0687	0.93123	0.0:1.0:0.0:0.0	.	.	.	.	X	447;11;98;166;230	.	ENSP00000301764:E447X	E	-	1	0	DDB1	60840404	1.000000	0.71417	0.893000	0.35052	0.968000	0.65278	7.797000	0.85911	2.522000	0.85027	0.655000	0.94253	GAA	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Nonsense_Mutation	SNP	11 : 61083828 - 61083828 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	834	7
DGCR2	9993	broad.mit.edu	37	22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	335					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GTCTCACCTGGGTCCAGACAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	154	154			NA	NA	22		NA											NA				19035956		2203	4300	6503	SO:0001583	missense			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413	9993	9993			2845	protein-coding gene	gene with protein product	integral membrane protein DGCR2	600594			NA	7655455, 8630060	Standard	NM_005137	NM_005137	NA	Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1003C>T	22.37:g.19035956G>A	ENSP00000263196:p.Pro335Ser	NA	A6NIB5|A8K6K5	37	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711467	0.68730	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97114	0.87;-4.25	5.8	5.8	0.92144	.	0.100398	0.64402	D	0.000001	D	0.95338	0.8487	L	0.46157	1.445	0.80722	D	1	P;P	0.41232	0.743;0.485	B;B	0.38755	0.281;0.146	D	0.94464	0.7679	10	0.34782	T	0.22	.	19.6734	0.95921	0.0:0.0:1.0:0.0	.	291;335	B7Z3T5;P98153	.;IDD_HUMAN	S	294;335	ENSP00000440062:P294S;ENSP00000263196:P335S	ENSP00000263196:P335S	P	-	1	0	DGCR2	17415956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.485000	0.73625	2.735000	0.93741	0.655000	0.94253	CCA	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316504.1		-	ENST00000263196.7	Missense_Mutation	SNP	22 : 19035956 - 19035956 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	421	14
DNAAF3	352909	broad.mit.edu	37	19	55676757	55676757	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:55676757C>T	ENST00000527223.2	-	4	508	c.507G>A	c.(505-507)ccG>ccA	p.P169P	DNAAF3_ENST00000391720.4_Silent_p.P148P|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Silent_p.P101P|DNAAF3_ENST00000455045.1_Silent_p.P47P	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	101											NA						CCATCTTCTCCGGTTCCTCCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3930		0,0,1965	66	71	70		444	-8.2	0.1	19		70	1,8307		0,1,4153	no	coding-synonymous	C19orf51	NM_178837.3		0,1,6118	TT,TC,CC	NA	0.012,0.0,0.0082		148/589	55676757	1,12237	1965	4154	6119	SO:0001819	synonymous_variant			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646	352909	352909			30492	protein-coding gene	gene with protein product		614566	chromosome 19 open reading frame 51, ciliary dyskinesia, primary 2	C19orf51, CILD2	NA	22387996	Standard	NM_178837	NM_001256714	NA	Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000527223.2:c.507G>A	19.37:g.55676757C>T		NA	A8MUY0|Q6P4F6|Q8N9W0|Q96AR2	37	CCDS58680.1																																																																																			DNAAF3-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250386.4		-	ENST00000527223.2	Silent	SNP	19 : 55676757 - 55676757 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	291	13
DNER	92737	broad.mit.edu	37	2	230377562	230377562	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:230377562C>T	ENST00000341772.4	-	6	1218	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	362	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATACAGCTCGCGTTGTTTTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	187	200			NA	NA	2		NA											NA				230377562		2203	4300	6503	SO:0001583	missense			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957	92737	92737			24456	protein-coding gene	gene with protein product		607299			NA	11950833, 11997712	Standard	NM_139072	NM_139072	NA	Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1084G>A	2.37:g.230377562C>T	ENSP00000345229:p.Ala362Thr	NA	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281809	0.59758	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.94232	-3.38	5.76	5.76	0.90799	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.221819	0.45867	D	0.000328	D	0.95082	0.8407	M	0.77486	2.375	0.27064	N	0.963488	D	0.57899	0.981	P	0.50049	0.629	D	0.91199	0.4990	10	0.72032	D	0.01	.	18.7207	0.91692	0.0:1.0:0.0:0.0	.	362	Q8NFT8	DNER_HUMAN	T	362;90	ENSP00000345229:A362T	ENSP00000345229:A362T	A	-	1	0	DNER	230085806	0.921000	0.31238	0.021000	0.16686	0.046000	0.14306	5.864000	0.69575	2.724000	0.93272	0.591000	0.81541	GCG	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331902.1		-	ENST00000341772.4	Missense_Mutation	SNP	2 : 230377562 - 230377562 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	392	31
EHHADH	1962	broad.mit.edu	37	3	184910478	184910478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:184910478G>A	ENST00000456310.1	-	7	1856	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	EHHADH_ENST00000231887.3_Nonsense_Mutation_p.R570*			Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	570	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGCCAAATCGTCCTAATTCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	81	84			NA	NA	3		NA											NA				184910478		2203	4300	6503	SO:0001587	stop_gained			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	1962	1962	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase	ECHD	NA	8188243	Standard		NM_001966	NA	Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000456310.1:c.1420C>T	3.37:g.184910478G>A	ENSP00000387746:p.Arg474*	NA	A8K6Y3|D3DNU0|Q58EZ5	37	CCDS54694.1	.	.	.	.	.	.	.	.	.	.	G	39	7.633440	0.98403	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	.	.	.	5.91	-0.0269	0.13928	.	0.058373	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3739	17.2992	0.87177	0.0:0.0:0.3145:0.6855	.	.	.	.	X	570;474	.	ENSP00000231887:R570X	R	-	1	2	EHHADH	186393172	1.000000	0.71417	0.893000	0.35052	0.999000	0.98932	1.576000	0.36504	0.050000	0.15949	0.655000	0.94253	CGA	EHHADH-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345327.1		-	ENST00000456310.1	Nonsense_Mutation	SNP	3 : 184910478 - 184910478 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	366	9
F5	2153	broad.mit.edu	37	1	169519117	169519117	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:169519117G>C	ENST00000367796.3	-	10	1734	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Missense_Mutation_p.I511M			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	511	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTCTCTCATGATGTCCACGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	187	195			NA	NA	1		NA											NA				169519117		2203	4300	6503	SO:0001583	missense			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734	2153	2153			3542	protein-coding gene	gene with protein product		612309			NA		Standard	NM_000130	NM_000130	NA	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367796.3:c.1533C>G	1.37:g.169519117G>C	ENSP00000356770:p.Ile511Met	NA	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	37		.	.	.	.	.	.	.	.	.	.	G	9.285	1.049094	0.19827	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98602	-5.02;-5.02	5.71	0.262	0.15597	Cupredoxin (2);	0.596635	0.18720	N	0.133041	D	0.85600	0.5734	N	0.11064	0.09	0.25005	N	0.991444	B	0.26195	0.144	B	0.18263	0.021	T	0.74819	-0.3535	9	0.15066	T	0.55	-0.6017	7.1569	0.25643	0.2659:0.4684:0.2657:0.0	.	511	P12259	FA5_HUMAN	M	511	ENSP00000356771:I511M;ENSP00000356770:I511M	ENSP00000356770:I511M	I	-	3	3	F5	167785741	0.072000	0.21174	0.226000	0.23910	0.924000	0.55760	-0.367000	0.07553	0.060000	0.16281	-0.175000	0.13238	ATC	F5-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083713.1		-	ENST00000367796.3	Missense_Mutation	SNP	1 : 169519117 - 169519117 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	477	8
FAM188B	84182	broad.mit.edu	37	7	30825421	30825421	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:30825421C>A	ENST00000265299.6	+	4	553	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	159										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAGGCCCCCGCACAAAAGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	104	102			NA	NA	7		NA											NA				30825421		1846	4097	5943	SO:0001583	missense			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125	84182	84182			21916	protein-coding gene	gene with protein product			chromosome 7 open reading frame 67	C7orf67	NA		Standard	NM_032222	NM_032222	NA	Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.476C>A	7.37:g.30825421C>A	ENSP00000265299:p.Pro159Gln	NA	Q71AZ7|Q9H6D2	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251521	0.05867	.	.	ENSG00000106125	ENST00000265299	T	0.23552	1.9	5.19	2.32	0.28847	.	0.790451	0.11983	N	0.510580	T	0.16642	0.0400	L	0.41236	1.265	0.09310	N	1	P	0.34955	0.477	B	0.24701	0.055	T	0.19943	-1.0290	10	0.87932	D	0	-7.9428	4.8572	0.13564	0.1701:0.6496:0.0:0.1803	.	159	Q4G0A6	F188B_HUMAN	Q	159	ENSP00000265299:P159Q	ENSP00000265299:P159Q	P	+	2	0	FAM188B	30791946	0.001000	0.12720	0.104000	0.21259	0.172000	0.22775	1.070000	0.30653	0.762000	0.33152	0.650000	0.86243	CCG	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327962.1		+	ENST00000265299.6	Missense_Mutation	SNP	7 : 30825421 - 30825421 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	680	9
FAM193A	8603	broad.mit.edu	37	4	2691390	2691390	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2691390A>T	ENST00000502458.1	+	13	2003	c.1682A>T	c.(1681-1683)aAg>aTg	p.K561M	FAM193A_ENST00000324666.5_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M|FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M			P78312	F193A_HUMAN	family with sequence similarity 193, member A	539										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGAATGATAAGAACTGGAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	72			NA	NA	4		NA											NA				2691390		2203	4300	6503	SO:0001583	missense			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04			8603	8603			16822	protein-coding gene	gene with protein product			chromosome 4 open reading frame 8	C4orf8	NA	9734812	Standard	NM_003704	NR_046335	NA	Approved	RES4-22	uc010ick.3	P78312		ENST00000502458.1:c.1682A>T	4.37:g.2691390A>T	ENSP00000427505:p.Lys561Met	NA	O43607|P78311|P78313|Q9UEG8	37	CCDS58874.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973078	0.74246	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.997;0.998	T	0.47724	-0.9095	10	0.72032	D	0.01	-39.2116	14.6205	0.68582	1.0:0.0:0.0:0.0	.	539;561;539;561;539	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	M	539;539;539;561;393	ENSP00000372290:K539M;ENSP00000324587:K539M;ENSP00000443617:K539M;ENSP00000427505:K561M;ENSP00000427260:K393M	ENSP00000324587:K539M	K	+	2	0	FAM193A	2661188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.217000	0.72218	2.048000	0.60808	0.456000	0.33151	AAG	FAM193A-005	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360907.1		+	ENST00000502458.1	Missense_Mutation	SNP	4 : 2691390 - 2691390 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	373	8
FARSA	2193	broad.mit.edu	37	19	13039582	13039582	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:13039582C>T	ENST00000588025.1	-	6	843	c.703G>A	c.(703-705)Gag>Aag	p.E235K	FARSA_ENST00000423140.2_Intron|FARSA_ENST00000314606.4_Missense_Mutation_p.E195K			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	195					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAGATCATCTCTGGGCTCAGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	96	103			NA	NA	19		NA											NA				13039582		2203	4300	6503	SO:0001583	missense			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	2193	2193	6.1.1.20	Aminoacyl tRNA synthetases / Class II	3592	protein-coding gene	gene with protein product	phenylalanine tRNA ligase 1, alpha, cytoplasmic	602918	phenylalanine-tRNA synthetase-like, phenylalanyl-tRNA synthetase-like, alpha subunit	FARSL, FARSLA	NA	9177188	Standard	NM_004461	NM_004461	NA	Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000588025.1:c.703G>A	19.37:g.13039582C>T	ENSP00000468051:p.Glu235Lys	NA	Q9NSD8|Q9Y4W8	37		.	.	.	.	.	.	.	.	.	.	C	24.3	4.517058	0.85495	.	.	ENSG00000179115	ENST00000314606	T	0.68903	-0.36	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.91872	3.25	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.55222	0.771;0.771	D	0.87035	0.2137	10	0.87932	D	0	-15.1624	17.0788	0.86593	0.0:1.0:0.0:0.0	.	195;195	Q6IBR2;Q9Y285	.;SYFA_HUMAN	K	195	ENSP00000320309:E195K	ENSP00000320309:E195K	E	-	1	0	FARSA	12900582	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.952000	0.75989	2.563000	0.86464	0.563000	0.77884	GAG	FARSA-006	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000451933.1		-	ENST00000588025.1	Missense_Mutation	SNP	19 : 13039582 - 13039582 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	335	69
FBN2	2201	broad.mit.edu	37	5	127624885	127624885	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:127624885C>T	ENST00000508053.1	-	58	7545	c.6571G>A	c.(6571-6573)Gac>Aac	p.D2191N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N			P35556	FBN2_HUMAN	fibrillin 2	2191	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAAGATCCGTCGGTGTTGATA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	150	154			NA	NA	5		NA											NA				127624885		2203	4300	6503	SO:0001583	missense			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6571G>A	5.37:g.127624885C>T	ENSP00000424571:p.Asp2191Asn	NA	B4DU01|Q59ES6	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715887	0.89112	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92299	-3.01;-3.01	5.76	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.090325	0.48286	D	0.000191	D	0.87087	0.6090	L	0.46885	1.475	0.51233	D	0.999917	P	0.51933	0.949	B	0.35470	0.203	D	0.86989	0.2109	10	0.34782	T	0.22	.	15.7202	0.77705	0.0:0.9314:0.0:0.0686	.	2191	P35556	FBN2_HUMAN	N	2191	ENSP00000262464:D2191N;ENSP00000424571:D2191N	ENSP00000262464:D2191N	D	-	1	0	FBN2	127652784	1.000000	0.71417	0.702000	0.30337	0.730000	0.41778	5.939000	0.70179	2.882000	0.98803	0.655000	0.94253	GAC	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Missense_Mutation	SNP	5 : 127624885 - 127624885 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	600	24
FBXO40	51725	broad.mit.edu	37	3	121340995	121340995	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:121340995G>A	ENST00000338040.4	+	3	1133	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	240					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGCTGTGAGAGCAAGAACAAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	74	72			NA	NA	3		NA											NA				121340995		2203	4300	6503	SO:0001583	missense			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833	51725	51725		F-boxes /  other	29816	protein-coding gene	gene with protein product		609107			NA	10574462	Standard	NM_016298	NM_016298	NA	Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.719G>A	3.37:g.121340995G>A	ENSP00000337510:p.Ser240Asn	NA	B2RAX7|Q32M70|Q9ULM5	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041439	0.02013	.	.	ENSG00000163833	ENST00000338040	T	0.43688	0.94	5.64	2.3	0.28687	.	1.305700	0.04337	N	0.353342	T	0.22475	0.0542	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19647	-1.0299	10	0.17832	T	0.49	-0.1509	4.5317	0.12008	0.3425:0.1562:0.5013:0.0	.	240	Q9UH90	FBX40_HUMAN	N	240	ENSP00000337510:S240N	ENSP00000337510:S240N	S	+	2	0	FBXO40	122823685	0.057000	0.20700	0.014000	0.15608	0.512000	0.34134	0.903000	0.28475	0.121000	0.18284	0.591000	0.81541	AGC	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355158.1		+	ENST00000338040.4	Missense_Mutation	SNP	3 : 121340995 - 121340995 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	133	4
FGF13	2258	broad.mit.edu	37	X	137793125	137793125	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:137793125C>G	ENST00000315930.6	-	1	702	c.41G>C	c.(40-42)aGg>aCg	p.R14T	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000305414.4_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	14					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCGGGCTTGCCTCTTCTGACG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	82			NA	NA	X		NA											NA				137793125		2203	4300	6503	SO:0001583	missense			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682	2258	2258			3670	protein-coding gene	gene with protein product	fibroblast growth factor homologous factor 2	300070			NA	8790420	Standard	NM_004114	NM_033642	NA	Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.41G>C	X.37:g.137793125C>G	ENSP00000322390:p.Arg14Thr	NA	B1AK18|O95830	37	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473036	0.84640	.	.	ENSG00000129682	ENST00000315930	D	0.84944	-1.92	4.29	4.29	0.51040	.	.	.	.	.	D	0.86464	0.5939	L	0.60455	1.87	0.80722	D	1	P	0.46277	0.875	P	0.48524	0.58	D	0.88447	0.3046	9	0.72032	D	0.01	.	15.3424	0.74309	0.0:1.0:0.0:0.0	.	14	Q92913	FGF13_HUMAN	T	14	ENSP00000322390:R14T	ENSP00000322390:R14T	R	-	2	0	FGF13	137620791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.318000	0.79029	1.889000	0.54706	0.529000	0.55759	AGG	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058534.2		-	ENST00000315930.6	Missense_Mutation	SNP	X : 137793125 - 137793125 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	446	13
FNDC3A	22862	broad.mit.edu	37	13	49775956	49775956	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:49775956G>C	ENST00000492622.2	+	24	3313	c.3008G>C	c.(3007-3009)gGa>gCa	p.G1003A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1003	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATACAGAGGACCATGTCAT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	81	81			NA	NA	13		NA											NA				49775956		2202	4300	6502	SO:0001583	missense			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531	22862	22862		Fibronectin type III domain containing	20296	protein-coding gene	gene with protein product		615794	fibronectin type III domain containing 3	FNDC3	NA		Standard	NM_014923	NM_001079673	NA	Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3008G>C	13.37:g.49775956G>C	ENSP00000417257:p.Gly1003Ala	NA	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833531	0.91036	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56611	0.45;0.45;0.45	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.78723	0.4328	M	0.90082	3.085	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.91635	0.999;0.908	T	0.76822	-0.2817	10	0.33141	T	0.24	-24.3933	19.848	0.96722	0.0:0.0:1.0:0.0	.	947;1003	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	A	1003;939;1003;947	ENSP00000417257:G1003A;ENSP00000441831:G1003A;ENSP00000381362:G947A	ENSP00000338579:G939A	G	+	2	0	FNDC3A	48673957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GGA	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354845.2		+	ENST00000492622.2	Missense_Mutation	SNP	13 : 49775956 - 49775956 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	442	6
FZD10	11211	broad.mit.edu	37	12	130648711	130648711	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130648711C>T	ENST00000539839.1	+	1	1708	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	FZD10_ENST00000229030.4_Silent_p.I408I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCTGGTCATCGGCACGTCCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	133	137			NA	NA	12		NA											NA				130648711		2203	4300	6503	SO:0001583	missense			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432	11211	11211		GPCR / Class F : Frizzled receptors, CD molecules	4039	protein-coding gene	gene with protein product		606147	frizzled (Drosophila) homolog 10, frizzled homolog 10 (Drosophila), frizzled 10, seven transmembrane spanning receptor, frizzled family receptor 10		NA	10448064	Standard		NM_007197	NA	Approved	CD350	uc001uii.3	Q9ULW2		ENST00000539839.1:c.1126C>T	12.37:g.130648711C>T	ENSP00000438460:p.Arg376Trp	NA		37		.	.	.	.	.	.	.	.	.	.	C	8.505	0.865101	0.17250	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	-2.84	0.05751	.	.	.	.	.	T	0.68888	0.3050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72903	-0.4151	5	0.87932	D	0	.	12.273	0.54716	0.0:0.2908:0.5973:0.1119	.	.	.	.	W	376	.	ENSP00000438460:R376W	R	+	1	2	FZD10	129214664	0.038000	0.19896	0.092000	0.20876	0.725000	0.41563	-0.798000	0.04565	-0.407000	0.07576	-0.305000	0.09177	CGG	FZD10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000399508.1		+	ENST00000539839.1	Missense_Mutation	SNP	12 : 130648711 - 130648711 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	243	67
GABRG2	2566	broad.mit.edu	37	5	161580182	161580182	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:161580182C>T	ENST00000356592.3	+	10	1696	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGAAGAGTACGGCTATGAGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	170	175			NA	NA	5		NA											NA				161580182		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327	NA	2566		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4087	protein-coding gene	gene with protein product	GABA(A) receptor, gamma 2	137164			NA		Standard		NM_198904	NA	Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000356592.3:c.1236C>T	5.37:g.161580182C>T		NA	Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	37	CCDS4359.1																																																																																			GABRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252705.2		+	ENST00000356592.3	Silent	SNP	5 : 161580182 - 161580182 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	318	6
GATAD2B	57459	broad.mit.edu	37	1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	101	106			NA	NA	1		NA											NA				153789912		2203	4300	6503	SO:0001583	missense			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614	57459	57459		GATA zinc finger domain containing	30778	protein-coding gene	gene with protein product	transcription repressor p66 beta component of the MeCP1 complex	614998			NA	10574461, 11756549	Standard	NM_020699	NM_020699	NA	Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.836C>T	1.37:g.153789912G>A	ENSP00000357644:p.Pro279Leu	NA	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284508	0.40394	.	.	ENSG00000143614	ENST00000368655	T	0.35605	1.3	5.87	5.87	0.94306	.	0.054498	0.85682	D	0.000000	T	0.19248	0.0462	L	0.38175	1.15	0.80722	D	1	D	0.53619	0.961	B	0.36989	0.238	T	0.02126	-1.1209	10	0.40728	T	0.16	-4.5218	19.3531	0.94398	0.0:0.0:1.0:0.0	.	279	Q8WXI9	P66B_HUMAN	L	279	ENSP00000357644:P279L	ENSP00000357644:P279L	P	-	2	0	GATAD2B	152056536	1.000000	0.71417	0.931000	0.37212	0.149000	0.21700	6.016000	0.70798	2.941000	0.99782	0.655000	0.94253	CCG	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090305.1		-	ENST00000368655.4	Missense_Mutation	SNP	1 : 153789912 - 153789912 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	430	110
GLI3	2737	broad.mit.edu	37	7	42116379	42116379	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:42116379C>T	ENST00000395925.3	-	4	529	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	149					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGAGATGGATCGTAATGGTAA	0.433		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	142	150			NA	NA	7		NA											NA				42116379		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.445G>A	7.37:g.42116379C>T	ENSP00000379258:p.Asp149Asn	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070585	0.93950	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T;T	0.69561	-0.41;-0.41	5.65	5.65	0.86999	.	0.099090	0.64402	D	0.000003	T	0.72510	0.3469	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.57960	0.83	T	0.74411	-0.3674	10	0.72032	D	0.01	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	149	P10071	GLI3_HUMAN	N	149	ENSP00000379258:D149N;ENSP00000406135:D149N	ENSP00000379258:D149N	D	-	1	0	GLI3	42082904	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.252000	0.78309	2.817000	0.96982	0.563000	0.77884	GAT	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Missense_Mutation	SNP	7 : 42116379 - 42116379 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	359	8
GNB1L	54584	broad.mit.edu	37	22	19794255	19794255	+	Missense_Mutation	SNP	T	T	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19794255T>A	ENST00000329517.6	-	6	679	c.443A>T	c.(442-444)aAg>aTg	p.K148M	GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	148					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CACTGACGTCTTGGAGGGCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	44	47			NA	NA	22		NA											NA				19794255		2203	4300	6503	SO:0001583	missense			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838	NA	54584		WD repeat domain containing	4397	protein-coding gene	gene with protein product		610778			NA	11072084	Standard		NM_053004	NA	Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.443A>T	22.37:g.19794255T>A	ENSP00000331313:p.Lys148Met	NA	Q9H2S2|Q9H4M4	37	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640031	0.87760	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.40756	1.02;1.02;5.0	5.21	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.128959	0.50627	U	0.000116	T	0.52273	0.1724	M	0.77103	2.36	0.49299	D	0.999779	D	0.56746	0.977	P	0.49887	0.625	T	0.57774	-0.7753	10	0.87932	D	0	-3.2795	11.353	0.49598	0.1361:0.0:0.0:0.8639	.	148	Q9BYB4	GNB1L_HUMAN	M	148	ENSP00000331313:K148M;ENSP00000385154:K148M;ENSP00000384626:K148M	ENSP00000331313:K148M	K	-	2	0	GNB1L	18174255	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.204000	0.65180	0.798000	0.33994	-0.333000	0.08304	AAG	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075202.1		-	ENST00000329517.6	Missense_Mutation	SNP	22 : 19794255 - 19794255 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	76	8
GNB2	2783	broad.mit.edu	37	7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	rs147810006		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	ILE/ASN	0,4406		0,0,2203	60	60	60		803	4.4	1	7	dbSNP_134	60	2,8598		0,2,4298	no	missense	GNB2	NM_005273.3	149	0,2,6501	TT,TA,AA	NA	0.0233,0.0,0.0154	possibly-damaging	268/341	100276124	2,13004	2203	4300	6503	SO:0001583	missense			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354	2783	2783		WD repeat domain containing	4398	protein-coding gene	gene with protein product	G protein, beta-2 subunit, guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2, signal-transducing guanine nucleotide-binding regulatory protein beta subunit, transducin beta chain 2	139390			NA	9799793	Standard	NM_005273	NM_005273	NA	Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.803A>T	7.37:g.100276124A>T	ENSP00000305260:p.Asn268Ile	NA	P11016|P54312	37	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.125242	0.77436	0.0	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;D;D;D;D;T;T	0.82619	5.0;-1.63;-1.63;-1.63;-1.63;5.0;5.0	5.67	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.75264	2.295	0.58432	D	0.999996	B	0.32409	0.37	P	0.44732	0.459	D	0.86865	0.2032	10	0.72032	D	0.01	-11.881	10.667	0.45736	0.8397:0.1603:0.0:0.0	.	268	P62879	GBB2_HUMAN	I	268;224;224;168;168;268;268	ENSP00000305260:N268I;ENSP00000401873:N224I;ENSP00000389391:N224I;ENSP00000390543:N168I;ENSP00000400286:N168I;ENSP00000377503:N268I;ENSP00000377501:N268I	ENSP00000305260:N268I	N	+	2	0	GNB2	100114060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.846000	0.39289	2.174000	0.68829	0.454000	0.30748	AAC	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268391.2		+	ENST00000303210.4	Missense_Mutation	SNP	7 : 100276124 - 100276124 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	202	46
GPC4	2239	broad.mit.edu	37	X	132445300	132445300	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:132445300C>A	ENST00000370828.3	-	4	1387	c.863G>T	c.(862-864)tGg>tTg	p.W288L	GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	288					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAAATTGTTCCATTCAAAATC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	140	145			NA	NA	X		NA											NA				132445300		2203	4300	6503	SO:0001583	missense			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716	2239	2239		Proteoglycans / Cell Surface : Glypicans	4452	protein-coding gene	gene with protein product	glypican proteoglycan 4	300168			NA	9787072	Standard	NM_001448	NM_001448	NA	Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.863G>T	X.37:g.132445300C>A	ENSP00000359864:p.Trp288Leu	NA	B2R6J7|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	37	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763050	0.89932	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.80566	-1.39;-1.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.90082	3.085	0.80722	D	1	D	0.63880	0.993	D	0.69142	0.962	D	0.93066	0.6478	10	0.87932	D	0	-19.8545	17.5641	0.87914	0.0:1.0:0.0:0.0	.	288	O75487	GPC4_HUMAN	L	288;282;218	ENSP00000359864:W288L;ENSP00000444959:W218L	ENSP00000359864:W288L	W	-	2	0	GPC4	132272966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.754000	0.85163	2.363000	0.80096	0.600000	0.82982	TGG	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058338.1		-	ENST00000370828.3	Missense_Mutation	SNP	X : 132445300 - 132445300 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	732	51
GPR4	2828	broad.mit.edu	37	19	46094142	46094142	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46094142G>T	ENST00000323040.4	-	2	1927	c.983C>A	c.(982-984)aCc>aAc	p.T328N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	328						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTCTTGGAGGTGAGTGGGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(117;181 1612 1673 14956 42937)							NA				0													95	85	88			NA	NA	19		NA											NA				46094142		2203	4300	6503	SO:0001583	missense			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464	2828	2828		GPCR / Class A : Orphans	4497	protein-coding gene	gene with protein product		600551			NA	8595909	Standard	NM_005282	NM_005282	NA	Approved		uc002pcm.3	P46093		ENST00000323040.4:c.983C>A	19.37:g.46094142G>T	ENSP00000319744:p.Thr328Asn	NA	A8K3T3|B0M0K1|Q6NWM4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674372	0.47781	.	.	ENSG00000177464	ENST00000323040	T	0.61742	0.08	4.53	4.53	0.55603	.	0.190762	0.35378	N	0.003255	T	0.32133	0.0819	N	0.08118	0	0.30785	N	0.741534	B	0.34103	0.437	B	0.27500	0.08	T	0.28870	-1.0030	10	0.19147	T	0.46	.	12.6317	0.56661	0.0:0.0:1.0:0.0	.	328	P46093	GPR4_HUMAN	N	328	ENSP00000319744:T328N	ENSP00000319744:T328N	T	-	2	0	GPR4	50785982	0.977000	0.34250	0.425000	0.26659	0.971000	0.66376	6.583000	0.74053	2.356000	0.79943	0.455000	0.32223	ACC	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459603.1		-	ENST00000323040.4	Missense_Mutation	SNP	19 : 46094142 - 46094142 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	549	13
GRIK2	2898	broad.mit.edu	37	6	102266348	102266348	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266348C>T	ENST00000369138.1	+	9	1797	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	GRIK2_ENST00000421544.1_Missense_Mutation_p.T436I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGATTGTTACCACCATTTTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	172	179			NA	NA	6		NA											NA				102266348		2203	4300	6503	SO:0001583	missense				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418	2898	2898		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4580	protein-coding gene	gene with protein product		138244		GLUR6	NA	8034316	Standard		NM_021956	NA	Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000369138.1:c.1307C>T	6.37:g.102266348C>T	ENSP00000358134:p.Thr436Ile	NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS55045.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935787	0.73442	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35789	2.8;2.8;2.8;2.8;2.8;2.8;1.29;2.8	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.56673	0.2001	M	0.77406	2.37	0.54753	D	0.999982	D;P;D	0.58970	0.984;0.932;0.984	D;P;P	0.65573	0.936;0.794;0.899	T	0.57665	-0.7772	10	0.59425	D	0.04	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436I;ENSP00000405596:T436I;ENSP00000358134:T436I;ENSP00000358133:T436I;ENSP00000313276:T436I;ENSP00000358130:T387I;ENSP00000391988:T149I;ENSP00000407140:T35I	ENSP00000313276:T436I	T	+	2	0	GRIK2	102373041	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.753000	0.94483	0.643000	0.83706	ACC	GRIK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043720.1		+	ENST00000369138.1	Missense_Mutation	SNP	6 : 102266348 - 102266348 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	113	6
GRIK2	2898	broad.mit.edu	37	6	102266347	102266347	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266347A>T	ENST00000369138.1	+	9	1796	c.1306A>T	c.(1306-1308)Acc>Tcc	p.T436S	GRIK2_ENST00000421544.1_Missense_Mutation_p.T436S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTGATTGTTACCACCATTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	172	179			NA	NA	6		NA											NA				102266347		2203	4300	6503	SO:0001583	missense				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418	2898	2898		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4580	protein-coding gene	gene with protein product		138244		GLUR6	NA	8034316	Standard		NM_021956	NA	Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000369138.1:c.1306A>T	6.37:g.102266347A>T	ENSP00000358134:p.Thr436Ser	NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS55045.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541984	0.45280	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35973	2.79;2.79;2.79;2.79;2.79;2.79;1.28;2.79	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.28830	0.0715	L	0.61218	1.895	0.43226	D	0.995116	B;B;B	0.18863	0.031;0.002;0.007	B;B;B	0.27380	0.079;0.022;0.049	T	0.15723	-1.0427	10	0.72032	D	0.01	.	16.151	0.81622	1.0:0.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436S;ENSP00000405596:T436S;ENSP00000358134:T436S;ENSP00000358133:T436S;ENSP00000313276:T436S;ENSP00000358130:T387S;ENSP00000391988:T149S;ENSP00000407140:T35S	ENSP00000313276:T436S	T	+	1	0	GRIK2	102373040	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.412000	0.66392	2.221000	0.72209	0.523000	0.50628	ACC	GRIK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043720.1		+	ENST00000369138.1	Missense_Mutation	SNP	6 : 102266347 - 102266347 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	138	9
HDAC9	9734	broad.mit.edu	37	7	18767353	18767353	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:18767353C>A	ENST00000406451.4	+	13	2023	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625S	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	NA					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAATGGACCGCCCCCTCCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	7		NA											NA				18767353		1988	4143	6131	SO:0001583	missense			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000406451.4:c.1873C>A	7.37:g.18767353C>A	ENSP00000384657:p.Arg625Ser	NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS47554.1	.	.	.	.	.	.	.	.	.	.	C	5.499	0.276989	0.10403	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.57107	0.43;0.42;0.42;0.43	4.87	1.44	0.22558	.	0.387462	0.22358	N	0.061105	T	0.35537	0.0935	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B;B	0.19817	0.001;0.01;0.034;0.01;0.02;0.01;0.039	B;B;B;B;B;B;B	0.17979	0.003;0.01;0.018;0.018;0.008;0.018;0.02	T	0.10337	-1.0634	10	0.09338	T	0.73	-24.6513	9.38	0.38306	0.0:0.7311:0.0:0.2689	.	625;537;584;628;625;625;603	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	S	625;584;625;628;537	ENSP00000384657:R625S;ENSP00000383912:R584S;ENSP00000410337:R625S;ENSP00000408617:R628S	ENSP00000339165:R537S	R	+	1	0	HDAC9	18733878	1.000000	0.71417	0.829000	0.32907	0.991000	0.79684	1.096000	0.30976	0.150000	0.19136	0.557000	0.71058	CGC	HDAC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326405.2		+	ENST00000406451.4	Missense_Mutation	SNP	7 : 18767353 - 18767353 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	135	5
HERC5	51191	broad.mit.edu	37	4	89414249	89414249	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:89414249G>A	ENST00000264350.3	+	17	2373	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	HERC5_ENST00000508159.1_Silent_p.P378P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	740	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCAGCCGGAATATGGGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(39;887 1012 34045 50514)							NA				0													189	166	174			NA	NA	4		NA											NA				89414249		2203	4300	6503	SO:0001819	synonymous_variant			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646	51191	51191			24368	protein-coding gene	gene with protein product		608242	hect domain and RLD 5		NA	10581175	Standard	NM_016323	NM_016323	NA	Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2220G>A	4.37:g.89414249G>A		NA	B2RTQ1|Q69G20	37	CCDS3630.1																																																																																			HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253554.2		+	ENST00000264350.3	Silent	SNP	4 : 89414249 - 89414249 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	336	28
HSF5	124535	broad.mit.edu	37	17	56557381	56557381	+	Silent	SNP	G	G	A	rs115372024	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56557381G>A	ENST00000323777.3	-	2	907	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTGTATAGGTAACCTCAG	0.478		NA											G	4	0.0018	0.01	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	0.0013	SNP								NA				0								G		44,4362	46.7+/-81.2	0,44,2159	277	240	253		798	-0.4	1	17	dbSNP_132	253	0,8600		0,0,4300	no	coding-synonymous	HSF5	NM_001080439.1		0,44,6459	AA,AG,GG	NA	0.0,0.9986,0.3383		266/597	56557381	44,12962	2203	4300	6503	SO:0001819	synonymous_variant			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160	124535	124535			26862	protein-coding gene	gene with protein product					NA		Standard	XM_064190	NM_001080439	NA	Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.798C>T	17.37:g.56557381G>A		NA	Q08EH7|Q8N7V2	37	CCDS32690.1																																																																																			HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444719.1		-	ENST00000323777.3	Silent	SNP	17 : 56557381 - 56557381 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	479	157
INA	9118	broad.mit.edu	37	10	105037160	105037160	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:105037160G>A	ENST00000369849.4	+	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	64	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCCTCGGCCTGGCCTATCGCC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	10	9			NA	NA	10		NA											NA				105037160		1987	4030	6017	SO:0001819	synonymous_variant			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798	9118	9118		Intermediate filaments type IV	6057	protein-coding gene	gene with protein product		605338		NEF5	NA	7769995	Standard	NM_032727	NM_032727	NA	Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.192G>A	10.37:g.105037160G>A		NA	B1AQK0|Q9BRC5	37	CCDS7545.1																																																																																			INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050145.1		+	ENST00000369849.4	Silent	SNP	10 : 105037160 - 105037160 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	80	19
INSRR	3645	broad.mit.edu	37	1	156824033	156824033	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156824033C>T	ENST00000368195.3	-	2	544	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	50					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCACCACGCTGCAGTTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	50	49			NA	NA	1		NA											NA				156824033		2203	4300	6503	SO:0001583	missense			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644	3645	3645		Fibronectin type III domain containing	6093	protein-coding gene	gene with protein product		147671			NA	2768234, 2249481	Standard	NM_014215	NM_014215	NA	Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.148G>A	1.37:g.156824033C>T	ENSP00000357178:p.Val50Met	NA	O60724|Q5VZS3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450024	0.63290	.	.	ENSG00000027644	ENST00000368195	D	0.82081	-1.57	5.06	4.15	0.48705	EGF receptor, L domain (1);	0.000000	0.41294	D	0.000916	D	0.87939	0.6304	.	.	.	0.48341	D	0.999632	D	0.89917	1.0	D	0.81914	0.995	D	0.89318	0.3638	9	0.72032	D	0.01	.	11.4951	0.50404	0.0:0.9113:0.0:0.0887	.	50	P14616	INSRR_HUMAN	M	50	ENSP00000357178:V50M	ENSP00000357178:V50M	V	-	1	0	INSRR	155090657	0.646000	0.27295	0.893000	0.35052	0.832000	0.47134	1.287000	0.33284	1.146000	0.42352	-0.252000	0.11476	GTG	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098929.1		-	ENST00000368195.3	Missense_Mutation	SNP	1 : 156824033 - 156824033 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	209	81
KATNAL2	83473	broad.mit.edu	37	18	44559687	44559687	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:44559687G>A	ENST00000592005.1	+	3	724				KATNAL2_ENST00000356157.7_Intron|TCEB3B_ENST00000332567.4_Missense_Mutation_p.T650M|KATNAL2_ENST00000245121.5_Intron			Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	NA						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ATCATAAGGCGTCTTGGCCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	133	133			NA	NA	18		NA											NA				44559687		2203	4300	6503	SO:0001627	intron_variant			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216	83473	83473		ATPases / AAA-type	25387	protein-coding gene	gene with protein product		614697			NA	12477932	Standard	NM_031303	NM_031303	NA	Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000592005.1:c.51+32801G>A	18.37:g.44559687G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	10.28	1.307100	0.23821	.	.	ENSG00000206181	ENST00000332567	T	0.07216	3.21	1.4	-0.709	0.11237	.	0.754074	0.11156	U	0.593616	T	0.16471	0.0396	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.15636	-1.0430	10	0.62326	D	0.03	-1.8221	6.9376	0.24474	0.0:0.5733:0.4267:0.0	.	650	Q8IYF1	ELOA2_HUMAN	M	650	ENSP00000331302:T650M	ENSP00000331302:T650M	T	-	2	0	TCEB3B	42813685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.276000	0.18716	-0.250000	0.09555	-0.222000	0.12452	ACG	KATNAL2-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446324.2		+	ENST00000592005.1	Intron	SNP	18 : 44559687 - 44559687 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	707	293
KCTD7	154881	broad.mit.edu	37	7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:66103879G>A	ENST00000443322.1	+	4	652	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000275532.3_Missense_Mutation_p.R177H			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R177H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCGGCTGCGTGCGGTCCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											62	63	63			NA	NA	7		NA											NA				66103879		2203	4300	6503	SO:0001583	missense			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335	154881	154881			21957	protein-coding gene	gene with protein product		611725	potassium channel tetramerisation domain containing 7		NA	12477932	Standard	NM_153033	NM_001167961	NA	Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000443322.1:c.530G>A	7.37:g.66103879G>A	ENSP00000411624:p.Arg177His	NA	A4D2M4|Q8IVR0	37	CCDS55117.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320885	0.95682	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.79033	-1.23;-1.23	5.36	5.36	0.76844	.	.	.	.	.	T	0.79411	0.4441	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.51170	0.661	T	0.80476	-0.1366	9	0.52906	T	0.07	.	18.4294	0.90620	0.0:0.0:1.0:0.0	.	177	Q96MP8	KCTD7_HUMAN	H	177	ENSP00000275532:R177H;ENSP00000411624:R177H	ENSP00000275532:R177H	R	+	2	0	KCTD7	65741314	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	9.097000	0.94193	2.675000	0.91044	0.655000	0.94253	CGT	KCTD7-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345614.1		+	ENST00000443322.1	Missense_Mutation	SNP	7 : 66103879 - 66103879 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	250	5
KIAA0825	285600	broad.mit.edu	37	5	93856355	93856355	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:93856355A>G	ENST00000513200.3	-	4	640	c.568T>C	c.(568-570)Tta>Cta	p.L190L	KIAA0825_ENST00000312498.7_Silent_p.L190L|KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000329378.7_Silent_p.L190L	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	190										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTTTCAATAAAATTTTTTGC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	113	112			NA	NA	5		NA											NA				93856355		2203	4299	6502	SO:0001819	synonymous_variant			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261	285600	285600			28532	protein-coding gene	gene with protein product			chromosome 5 open reading frame 36	C5orf36	NA	12477932	Standard	NM_173665	NM_173665	NA	Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.568T>C	5.37:g.93856355A>G		NA	O94914|Q6ZNN2	37																																																																																				KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000254102.5		-	ENST00000513200.3	Silent	SNP	5 : 93856355 - 93856355 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	414	30
KMT2D	8085	broad.mit.edu	37	12	49416371	49416371	+	Splice_Site	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:49416371A>C	ENST00000301067.7	-	51	16338		c.e51+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCCAGCTCATACCTGCTCTTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	162	161			NA	NA	12		NA											NA				49416371		2028	4187	6215	SO:0001630	splice_region_variant			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	8085	8085		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7133	protein-coding gene	gene with protein product		602113	trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2	TNRC21, MLL2	NA	9247308	Standard		NM_003482	NA	Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16338+1T>G	12.37:g.49416371A>C		NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303615	0.40795	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0915	0.64993	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47702638	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	8.672000	0.91181	2.040000	0.60383	0.482000	0.46254	.	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2	Intron	-	ENST00000301067.7	Splice_Site	SNP	12 : 49416371 - 49416371 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	916	11
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	420	120
KSR2	283455	broad.mit.edu	37	12	118405988	118405988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:118405988C>A	ENST00000339824.5	-	1	800	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	25					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACCAGTTCGCACTGCTGT	0.507		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	12		NA											NA				118405988		1568	3582	5150	SO:0001587	stop_gained			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435	283455	283455			18610	protein-coding gene	gene with protein product		610737			NA	12471243	Standard	NM_173598	NM_173598	NA	Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.73G>T	12.37:g.118405988C>A	ENSP00000339952:p.Glu25*	NA	A0PJT2|Q3B828|Q8N775	37		.	.	.	.	.	.	.	.	.	.	C	46	12.515743	0.99674	.	.	ENSG00000171435	ENST00000339824	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.2228	0.73327	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000339952:E25X	E	-	1	0	KSR2	116890371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.802000	0.75175	2.158000	0.67659	0.491000	0.48974	GAA	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000401987.2		-	ENST00000339824.5	Nonsense_Mutation	SNP	12 : 118405988 - 118405988 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	633	10
LAMA3	3909	broad.mit.edu	37	18	21355821	21355821	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21355821C>G	ENST00000313654.9	+	10	1580	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	447	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACTGCAAGCCAAATTTCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	18		NA											NA				21355821		1972	4163	6135	SO:0001583	missense			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747	3909	3909		Laminins	6483	protein-coding gene	gene with protein product		600805	laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)	LAMNA	NA	8077230	Standard	NM_000227, NM_198129	NM_000227	NA	Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1339C>G	18.37:g.21355821C>G	ENSP00000324532:p.Pro447Ala	NA	Q13679|Q13680|Q6VU68|Q76E14|Q96TG0	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.523	0.657060	0.14580	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.62105	0.05;0.05	4.76	1.88	0.25563	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.53158	0.1779	L	0.58510	1.815	0.48288	D	0.99962	B;B;B	0.34399	0.452;0.216;0.064	B;B;B	0.36567	0.228;0.069;0.069	T	0.37596	-0.9699	9	0.18710	T	0.47	.	7.7107	0.28675	0.0:0.7066:0.1346:0.1588	.	447;447;447	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	A	447;447;445;447	ENSP00000324532:P447A;ENSP00000382432:P447A	ENSP00000324532:P447A	P	+	1	0	LAMA3	19609819	0.034000	0.19679	0.358000	0.25811	0.709000	0.40893	0.580000	0.23803	0.603000	0.29913	-0.186000	0.12905	CCA	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254824.3		+	ENST00000313654.9	Missense_Mutation	SNP	18 : 21355821 - 21355821 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	370	6
LARP4	113251	broad.mit.edu	37	12	50847262	50847262	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:50847262A>G	ENST00000398473.2	+	9	936	c.824A>G	c.(823-825)aAt>aGt	p.N275S	LARP4_ENST00000518561.1_Missense_Mutation_p.N205S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000347328.5_Intron	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	275	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGCCATCAATACATTTTTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	96	100			NA	NA	12		NA											NA				50847262		1848	4091	5939	SO:0001583	missense			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813	113251	113251		La ribonucleoprotein domain containing	24320	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_052879	NM_052879	NA	Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.824A>G	12.37:g.50847262A>G	ENSP00000381490:p.Asn275Ser	NA	A8K6T1|Q5CZ97|Q6ZV14|Q96NF9	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926632	0.73327	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.57595	1.24;0.94;0.92;0.39;0.89;0.5	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P	0.69078	0.997;0.957;0.996;0.995;0.553	D;D;D;D;P	0.77557	0.985;0.914;0.99;0.956;0.627	T	0.72899	-0.4152	10	0.49607	T	0.09	.	13.3994	0.60874	1.0:0.0:0.0:0.0	.	176;274;275;275;281	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	S	275;281;275;275;275;274;205;176	ENSP00000293618:N275S;ENSP00000415464:N281S;ENSP00000381490:N275S;ENSP00000429781:N275S;ENSP00000429077:N274S;ENSP00000430851:N205S	ENSP00000293618:N275S	N	+	2	0	LARP4	49133529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.707000	0.91367	1.724000	0.51502	0.260000	0.18958	AAT	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374981.1		+	ENST00000398473.2	Missense_Mutation	SNP	12 : 50847262 - 50847262 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	345	104
LMNA	4000	broad.mit.edu	37	1	156105808	156105808	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156105808G>A	ENST00000368300.4	+	6	1265	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	LMNA_ENST00000473598.2_Silent_p.R252R|LMNA_ENST00000392353.3_Silent_p.R270R|LMNA_ENST00000448611.2_Silent_p.R239R|LMNA_ENST00000368299.3_Silent_p.R351R|LMNA_ENST00000368301.2_Silent_p.R351R|LMNA_ENST00000347559.2_Silent_p.R351R|LMNA_ENST00000368297.1_Silent_p.R270R|LMNA_ENST00000361308.4_Silent_p.R351R|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	351	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TGCGGGCAAGGATGCAGCAGC	0.647		NA							Werner syndrome;Hutchinson-Gilford Progeria Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	58	58			NA	NA	1		NA											NA				156105808		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789	4000	4000		Intermediate filaments type V, lamins	6636	protein-coding gene	gene with protein product		150330	cardiomyopathy, dilated 1A (autosomal dominant), limb girdle muscular dystrophy 1B (autosomal dominant), progeria 1 (Hutchinson-Gilford type), lamin A/C-like 1	LMN1, CMD1A, LGMD1B, PRO1, LMNL1	NA	8511676, 8838815, 12702809	Standard	NM_170707	NM_005572	NA	Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1053G>A	1.37:g.156105808G>A		NA	D3DVB0|P02546|Q5TCJ2|Q5TCJ3|Q969I8|Q96JA2	37	CCDS1129.1																																																																																			LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039200.2		+	ENST00000368300.4	Silent	SNP	1 : 156105808 - 156105808 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	271	12
LPA	4018	broad.mit.edu	37	6	161020546	161020546	+	Missense_Mutation	SNP	T	T	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:161020546T>G	ENST00000316300.5	-	20	3317	c.3273A>C	c.(3271-3273)gaA>gaC	p.E1091D	LPA_ENST00000447678.1_Missense_Mutation_p.E1091D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3599	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGGTAGTTTTCTGGGGTCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													307	333	324			NA	NA	6		NA											NA				161020546		2201	4300	6501	SO:0001583	missense			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670	4018	4018			6667	protein-coding gene	gene with protein product		152200		LP	NA	3670400	Standard	NM_005577	NM_005577	NA	Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3273A>C	6.37:g.161020546T>G	ENSP00000321334:p.Glu1091Asp	NA	Q5VTD7|Q9UD88	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	8.354	0.831520	0.16820	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.68025	-0.3;-0.3	2.48	-2.05	0.07321	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.31009	0.0783	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.31751	0.135	T	0.39683	-0.9602	9	0.30078	T	0.28	.	2.9399	0.05826	0.0:0.3134:0.2443:0.4423	.	3599	P08519	APOA_HUMAN	D	1091	ENSP00000321334:E1091D;ENSP00000395608:E1091D	ENSP00000321334:E1091D	E	-	3	2	LPA	160940536	0.000000	0.05858	0.013000	0.15412	0.003000	0.03518	-0.976000	0.03786	-0.618000	0.05656	-0.782000	0.03352	GAA	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042957.1		-	ENST00000316300.5	Missense_Mutation	SNP	6 : 161020546 - 161020546 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1203	8
LRRFIP2	9209	broad.mit.edu	37	3	37154441	37154441	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:37154441T>C	ENST00000396428.2	-	7	458	c.310A>G	c.(310-312)Aag>Gag	p.K104E	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.K135E|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.K135E|LRRFIP2_ENST00000421276.2_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	0	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACCTCTTCTTCATTCCATGA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Whole gene deletion(1)	ovary(1)											123	126	125			NA	NA	3		NA											NA				37154441		2203	4300	6503	SO:0001583	missense			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167	9209	9209			6703	protein-coding gene	gene with protein product		614043			NA	10366446	Standard	NM_006309	NM_017724	NA	Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000396428.2:c.310A>G	3.37:g.37154441T>C	ENSP00000379705:p.Lys104Glu	NA	A8K649|Q68CV3|Q9NXH5	37		.	.	.	.	.	.	.	.	.	.	T	15.62	2.886492	0.51908	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.46063	0.88;0.88;1.21	5.31	5.31	0.75309	.	0.394787	0.25872	N	0.027745	T	0.30355	0.0762	N	0.14661	0.345	0.32566	N	0.530498	P;P	0.45348	0.762;0.856	B;B	0.42738	0.303;0.396	T	0.40794	-0.9544	10	0.40728	T	0.16	-25.7202	14.3757	0.66874	0.0:0.0:0.0:1.0	.	104;135	A8MXR0;Q9Y608	.;LRRF2_HUMAN	E	135;135;104	ENSP00000392217:K135E;ENSP00000338727:K135E;ENSP00000379705:K104E	ENSP00000338727:K135E	K	-	1	0	LRRFIP2	37129445	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.517000	0.67061	2.145000	0.66743	0.482000	0.46254	AAG	LRRFIP2-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000342195.1		-	ENST00000396428.2	Missense_Mutation	SNP	3 : 37154441 - 37154441 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	868	234
MAGEB6	158809	broad.mit.edu	37	X	26213024	26213024	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:26213024G>A	ENST00000379034.1	+	2	1210	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	354	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATCCTCCATGCTATGAGTTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	64	64			NA	NA	X		NA											NA				26213024		2202	4292	6494	SO:0001583	missense			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746	158809	158809			23796	protein-coding gene	gene with protein product	cancer/testis antigen family 3, member 4	300467			NA	10861452	Standard	NM_173523	NM_173523	NA	Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1061G>A	X.37:g.26213024G>A	ENSP00000368320:p.Cys354Tyr	NA	Q6GS19|Q9H219	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	5.430	0.264533	0.10294	.	.	ENSG00000176746	ENST00000379034	T	0.04706	3.57	3.29	-2.14	0.07123	.	0.617794	0.14414	U	0.321058	T	0.04770	0.0129	M	0.66439	2.03	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.49881	-0.8892	10	0.08381	T	0.77	.	5.8566	0.18722	0.2283:0.511:0.2607:0.0	.	354	Q8N7X4	MAGB6_HUMAN	Y	354	ENSP00000368320:C354Y	ENSP00000368320:C354Y	C	+	2	0	MAGEB6	26122945	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.416000	0.02467	-0.702000	0.05056	-0.957000	0.02645	TGC	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056123.1		+	ENST00000379034.1	Missense_Mutation	SNP	X : 26213024 - 26213024 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	365	26
MAGEE2	139599	broad.mit.edu	37	X	75004797	75004797	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:75004797G>A	ENST00000373359.2	-	1	282	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	30								p.N30N(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCGGAGGCGTTAGTAGCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)											41	33	36			NA	NA	X		NA											NA				75004797		2203	4299	6502	SO:0001819	synonymous_variant			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675	139599	139599			24935	protein-coding gene	gene with protein product		300760			NA	11454705	Standard	NM_138703	NM_138703	NA	Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.90C>T	X.37:g.75004797G>A		NA	Q5JSI5	37	CCDS14431.1																																																																																			MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057288.1		-	ENST00000373359.2	Silent	SNP	X : 75004797 - 75004797 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	156	97
MAP4K3	8491	broad.mit.edu	37	2	39492429	39492429	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:39492429C>T	ENST00000263881.3	-	28	2375	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D|MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	684	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTATTTATGGCCCGTGTAAGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	123	119			NA	NA	2		NA											NA				39492429		2203	4295	6498	SO:0001583	missense			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566	8491	8491		Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1	NA	9275185	Standard	NM_003618	NM_003618	NA	Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2051G>A	2.37:g.39492429C>T	ENSP00000263881:p.Gly684Asp	NA	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342466	0.61073	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	5.05	5.05	0.67936	Citron-like (3);	0.052839	0.85682	D	0.000000	T	0.21801	0.0525	L	0.58810	1.83	0.80722	D	1	P;D	0.63880	0.571;0.993	P;D	0.68192	0.453;0.956	T	0.00154	-1.1981	10	0.41790	T	0.15	.	18.5768	0.91158	0.0:1.0:0.0:0.0	.	663;684	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	D	684;600;663;237	ENSP00000263881:G684D;ENSP00000416958:G600D;ENSP00000345434:G663D;ENSP00000440580:G237D	ENSP00000263881:G684D	G	-	2	0	MAP4K3	39345933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.493000	0.81493	2.615000	0.88500	0.591000	0.81541	GGC	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219966.2		-	ENST00000263881.3	Missense_Mutation	SNP	2 : 39492429 - 39492429 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1206	7
MCU	90550	broad.mit.edu	37	10	74631317	74631317	+	Silent	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:74631317A>T	ENST00000373053.3	+	6	861	c.840A>T	c.(838-840)gcA>gcT	p.A280A	MCU_ENST00000357157.6_Silent_p.A259A|MCU_ENST00000536019.1_Silent_p.A231A|MCU_ENST00000605416.1_3'UTR	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	280					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAATGTATGCATATTTTGTAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	10		NA											NA				74631317		2203	4300	6503	SO:0001819	synonymous_variant			BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026	90550	90550			23526	protein-coding gene	gene with protein product		614197	coiled-coil domain containing 109A	C10orf42, CCDC109A	NA	21685886, 21685888	Standard	NM_138357	NM_138357	NA	Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.840A>T	10.37:g.74631317A>T		NA	B2RDF3|B3KXV7|Q96FL3	37	CCDS7317.1																																																																																			MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048594.1		+	ENST00000373053.3	Silent	SNP	10 : 74631317 - 74631317 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	340	7
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:47426671G>A	ENST00000426342.1	-	9	1847	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000399232.2_Silent_p.Y596Y|MDGA2_ENST00000439988.3_Silent_p.Y665Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,3798		0,0,1899	98	96	97		1995,1101	2.7	1	14		97	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous	MDGA2	NM_001113498.2,NM_182830.3	,	0,1,6020	AA,AG,GG	NA	0.0121,0.0,0.0083	,	665/1026,367/728	47426671	1,12041	1899	4122	6021	SO:0001819	synonymous_variant			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915	161357	161357		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19835	protein-coding gene	gene with protein product		611128	MAM domain containing 1	MAMDC1	NA	15019943	Standard	NM_182830	NM_001113498	NA	Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000426342.1:c.1101C>T	14.37:g.47426671G>A		NA		37	CCDS41948.1																																																																																			MDGA2-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277084.2		-	ENST00000426342.1	Silent	SNP	14 : 47426671 - 47426671 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	376	13
MECP2	4204	broad.mit.edu	37	X	153296299	153296299	+	Missense_Mutation	SNP	G	G	A	rs61751369		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:153296299G>A	ENST00000303391.6	-	4	1229	c.980C>T	c.(979-981)aCc>aTc	p.T327I	MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	327					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	p.T327N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCGAGGGTGGACACCAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											75	67	70			NA	NA	X		NA											NA				153296299		2203	4300	6503	SO:0001583	missense			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057	4204	4204			6990	protein-coding gene	gene with protein product		300005	mental retardation, X-linked 16, mental retardation, X-linked 79, Rett syndrome, methyl CpG binding protein 2 (Rett syndrome)	RTT, MRX16, MRX79	NA	1606614, 10508514	Standard	NM_004992	NM_004992	NA	Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.980C>T	X.37:g.153296299G>A	ENSP00000301948:p.Thr327Ile	NA	O15233|Q6QHH9|Q7Z384	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599919	0.46318	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91295	-2.82;-2.81	5.06	5.06	0.68205	.	0.554194	0.19741	N	0.107108	T	0.81531	0.4842	N	0.14661	0.345	0.80722	D	1	B;B	0.26400	0.144;0.148	B;B	0.27170	0.077;0.035	T	0.76683	-0.2869	10	0.19147	T	0.46	-5.948	11.8253	0.52263	0.0:0.0:0.8245:0.1755	.	339;327	P51608-2;P51608	.;MECP2_HUMAN	I	327;327;339	ENSP00000301948:T327I;ENSP00000395535:T339I	ENSP00000301948:T327I	T	-	2	0	MECP2	152949493	0.912000	0.30974	0.128000	0.21923	0.887000	0.51463	5.301000	0.65727	2.344000	0.79699	0.600000	0.82982	ACC	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061144.1		-	ENST00000303391.6	Missense_Mutation	SNP	X : 153296299 - 153296299 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	445	12
MKI67	4288	broad.mit.edu	37	10	129905212	129905212	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:129905212C>T	ENST00000368654.3	-	13	5267	c.4892G>A	c.(4891-4893)cGa>cAa	p.R1631Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1631	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTGAGCCGTCGCTTGGAGCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													218	218	218			NA	NA	10		NA											NA				129905212		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4892G>A	10.37:g.129905212C>T	ENSP00000357643:p.Arg1631Gln	NA	Q5VWH2	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912034	0.17907	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03152	4.03;4.03	2.6	0.628	0.17681	.	0.461817	0.16195	N	0.225197	T	0.02230	0.0069	L	0.34521	1.04	0.09310	N	1	B;P;B	0.34562	0.053;0.457;0.275	B;B;B	0.22753	0.007;0.041;0.033	T	0.47355	-0.9124	10	0.25751	T	0.34	.	4.3863	0.11318	0.0:0.5705:0.1925:0.237	.	1630;1271;1631	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1631;1271;1630	ENSP00000357643:R1631Q;ENSP00000357642:R1271Q	ENSP00000357642:R1271Q	R	-	2	0	MKI67	129795202	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.262000	0.32992	0.166000	0.19597	-0.244000	0.11960	CGA	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129905212 - 129905212 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1032	17
MRPS14	63931	broad.mit.edu	37	1	174983906	174983906	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:174983906G>A	ENST00000476371.1	-	3	302	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	96					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.R96S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CCACGCGGACGGGACGTCATA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											155	143	147			NA	NA	1		NA											NA				174983906		2203	4300	6503	SO:0001583	missense			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333	63931	63931		Mitochondrial ribosomal proteins / small subunits	14049	protein-coding gene	gene with protein product		611978			NA		Standard	NM_022100	NR_037606	NA	Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.286C>T	1.37:g.174983906G>A	ENSP00000420714:p.Arg96Cys	NA	Q5R358	37	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899841	0.91962	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94083	0.7346	9	0.87932	D	0	-16.0916	20.6593	0.99626	0.0:0.0:1.0:0.0	.	96	O60783	RT14_HUMAN	C	96	.	ENSP00000420714:R96C	R	-	1	0	MRPS14	173250529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.365000	0.73090	2.885000	0.99019	0.655000	0.94253	CGT	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084416.2		-	ENST00000476371.1	Missense_Mutation	SNP	1 : 174983906 - 174983906 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	537	9
MRPS27	23107	broad.mit.edu	37	5	71533926	71533926	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:71533926A>G	ENST00000261413.5	-	5	350	c.311T>C	c.(310-312)cTg>cCg	p.L104P	MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	104						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CCAGTTTCTCAGGTACCAGCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	92	96			NA	NA	5		NA											NA				71533926		2203	4300	6503	SO:0001583	missense			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048	23107	23107		Mitochondrial ribosomal proteins / small subunits	14512	protein-coding gene	gene with protein product		611989			NA		Standard	NM_015084	NM_015084	NA	Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.311T>C	5.37:g.71533926A>G	ENSP00000261413:p.Leu104Pro	NA	Q6P1S1	37	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518352	0.85495	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.75657	0.3879	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79317	-0.1853	10	0.87932	D	0	-18.2091	15.0979	0.72250	1.0:0.0:0.0:0.0	.	118;48;104	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	P	104;48;118;48;48	ENSP00000261413:L104P;ENSP00000428120:L48P;ENSP00000426941:L118P;ENSP00000426176:L48P;ENSP00000427237:L48P	ENSP00000261413:L104P	L	-	2	0	MRPS27	71569682	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.771000	0.91751	1.970000	0.57323	0.374000	0.22700	CTG	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218560.2		-	ENST00000261413.5	Missense_Mutation	SNP	5 : 71533926 - 71533926 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	663	6
MRVI1	10335	broad.mit.edu	37	11	10622527	10622527	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:10622527G>A	ENST00000423302.2	-	15	2104	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000547195.1_Missense_Mutation_p.A561V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A625V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	625					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CATGAGCTCCGCATGGTCCTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,3876		0,0,1938	191	186	187		1931,1682,1010,1337,1010,1955	5.4	1	11		187	1,8269		0,1,4134	no	missense,missense,missense,missense,missense,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	64,64,64,64,64,64	0,1,6072	AA,AG,GG	NA	0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	644/905,561/822,337/598,446/707,337/598,652/913	10622527	1,12145	1938	4135	6073	SO:0001583	missense			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952	10335	10335			7237	protein-coding gene	gene with protein product	inositol 1,4,5-triphosphate-associated cGMP kinase substrate, IP3R-associated cGMP kinase substrate	604673			NA	10321731	Standard	NM_001098579	NM_001098579	NA	Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000423302.2:c.1955C>T	11.37:g.10622527G>A	ENSP00000412130:p.Ala652Val	NA	B7Z6I2|Q17S00|Q9UNY1	37	CCDS55746.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484238	0.96307	0.0	1.21E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.57075	-0.7873	10	0.72032	D	0.01	-10.4332	19.2679	0.93997	0.0:0.0:1.0:0.0	.	446;625;644;643	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	643;626;625;561;561;337;337;652;446;644;561	ENSP00000414598:A643V;ENSP00000412229:A625V;ENSP00000448278:A561V;ENSP00000446764:A561V;ENSP00000441971:A337V;ENSP00000401205:A337V;ENSP00000412130:A652V;ENSP00000437784:A446V;ENSP00000432436:A644V;ENSP00000432067:A561V	ENSP00000307885:A626V	A	-	2	0	MRVI1	10579103	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GCG	MRVI1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386137.2		-	ENST00000423302.2	Missense_Mutation	SNP	11 : 10622527 - 10622527 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	631	8
MUC16	94025	broad.mit.edu	37	19	9058858	9058858	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9058858C>G	ENST00000397910.4	-	3	28791	c.28588G>C	c.(28588-28590)Gag>Cag	p.E9530Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAGTTCCTCTGTAGCACTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	116	116			NA	NA	19		NA											NA				9058858		1961	4150	6111	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28588G>C	19.37:g.9058858C>G	ENSP00000381008:p.Glu9530Gln	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223796	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.3	-0.0756	0.13726	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	.	.	.	B	0.16603	0.018	B	0.17979	0.02	T	0.16748	-1.0392	8	0.87932	D	0	.	8.0918	0.30805	0.0:0.5336:0.4664:0.0	.	9530	B5ME49	.	Q	9530	ENSP00000381008:E9530Q	ENSP00000381008:E9530Q	E	-	1	0	MUC16	8919858	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.149000	0.10204	0.072000	0.16694	0.305000	0.20034	GAG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9058858 - 9058858 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	347	12
MYH4	4622	broad.mit.edu	37	17	10350494	10350494	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:10350494C>T	ENST00000255381.2	-	35	5115	c.5005G>A	c.(5005-5007)Gat>Aat	p.D1669N	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1669					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1669N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAAGGTCATCTTGGCCTCTG	0.478		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)											129	106	113			NA	NA	17		NA											NA				10350494		2203	4300	6503	SO:0001583	missense				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5005G>A	17.37:g.10350494C>T	ENSP00000255381:p.Asp1669Asn	NA		37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200015	0.94997	.	.	ENSG00000141048	ENST00000255381	T	0.79845	-1.31	5.29	5.29	0.74685	Myosin tail (1);	0.189171	0.25052	U	0.033501	D	0.86226	0.5882	M	0.85197	2.74	0.52099	D	0.999943	P	0.37781	0.608	B	0.42462	0.388	D	0.88012	0.2763	10	0.72032	D	0.01	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1669	Q9Y623	MYH4_HUMAN	N	1669	ENSP00000255381:D1669N	ENSP00000255381:D1669N	D	-	1	0	MYH4	10291219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.763000	0.85283	2.646000	0.89796	0.563000	0.77884	GAT	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1		-	ENST00000255381.2	Missense_Mutation	SNP	17 : 10350494 - 10350494 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	211	22
MYO1D	4642	broad.mit.edu	37	17	31094737	31094737	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:31094737C>G	ENST00000394649.4	-	9	1027	c.484G>C	c.(484-486)Gtt>Ctt	p.V162L	MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000318217.5_Missense_Mutation_p.V250L|MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L			O94832	MYO1D_HUMAN	myosin ID	250	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCATCAGCAACAACTCTGAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	84	90			NA	NA	17		NA											NA				31094737		2203	4300	6503	SO:0001583	missense			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658	4642	4642		Myosins / Myosin superfamily : Class I	7598	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 108	606539			NA	8884266	Standard		NM_015194	NA	Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000394649.4:c.484G>C	17.37:g.31094737C>G	ENSP00000464741:p.Val162Leu	NA	A6H8V3|Q8NHP9	37		.	.	.	.	.	.	.	.	.	.	C	33	5.288156	0.95517	.	.	ENSG00000176658	ENST00000318217	D	0.86627	-2.15	6.0	6.0	0.97389	Myosin head, motor domain (2);	0.000000	0.35646	U	0.003065	D	0.89329	0.6684	L	0.45698	1.435	0.58432	D	0.999999	P;P	0.51933	0.949;0.913	P;P	0.53760	0.734;0.649	D	0.89435	0.3719	10	0.62326	D	0.03	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	161;250	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	250	ENSP00000324527:V250L	ENSP00000324527:V250L	V	-	1	0	MYO1D	28118850	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.487000	0.81328	2.848000	0.98002	0.655000	0.94253	GTT	MYO1D-004	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447459.2		-	ENST00000394649.4	Missense_Mutation	SNP	17 : 31094737 - 31094737 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	327	5
MYO9A	4649	broad.mit.edu	37	15	72300289	72300289	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:72300289A>G	ENST00000564571.1	-	8	1417	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L|MYO9A_ENST00000356056.5_Missense_Mutation_p.F420L|RP11-390D11.1_ENST00000568391.1_RNA			B2RTY4	MYO9A_HUMAN	myosin IXA	420	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGAGAAAATCCTGGGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	91			NA	NA	15		NA											NA				72300289		2199	4296	6495	SO:0001583	missense			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.1258T>C	15.37:g.72300289A>G	ENSP00000456192:p.Phe420Leu	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	A	25.6	4.657601	0.88154	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87256	-2.23;-2.23;-2.23	5.28	5.28	0.74379	Myosin head, motor domain (2);	.	.	.	.	D	0.89966	0.6868	L	0.59436	1.845	0.80722	D	1	D;P;P;P	0.69078	0.997;0.474;0.794;0.859	P;P;P;P	0.59643	0.861;0.523;0.523;0.781	D	0.90607	0.4549	9	0.72032	D	0.01	.	11.2077	0.48780	0.8465:0.1535:0.0:0.0	.	401;420;401;420	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	L	420;420;401;401;420	ENSP00000348349:F420L;ENSP00000399162:F420L;ENSP00000398250:F401L	ENSP00000261864:F401L	F	-	1	0	MYO9A	70087343	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.834000	0.75339	2.107000	0.64212	0.460000	0.39030	TTC	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Missense_Mutation	SNP	15 : 72300289 - 72300289 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	300	5
NANOS2	339345	broad.mit.edu	37	19	46417571	46417571	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46417571G>A	ENST00000341294.2	-	1	465	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	127					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTTGCGCCCGCTGCGGCGGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	28			NA	NA	19		NA											NA				46417571		2201	4299	6500	SO:0001819	synonymous_variant			BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425	339345	339345			23292	protein-coding gene	gene with protein product		608228			NA	12947200, 12690449	Standard		NM_001029861	NA	Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.381C>T	19.37:g.46417571G>A		NA	Q17R30|Q4G0P8	37	CCDS33056.1																																																																																			NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461685.1		-	ENST00000341294.2	Silent	SNP	19 : 46417571 - 46417571 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	186	15
NCOA6	23054	broad.mit.edu	37	20	33337236	33337236	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:33337236C>A	ENST00000374796.2	-	10	5332	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	921	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTCTTCTTCCGAGGGGGTTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	95			NA	NA	20		NA											NA				33337236		2203	4300	6503	SO:0001583	missense			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646	23054	23054			15936	protein-coding gene	gene with protein product	nuclear receptor coactivator RAP250, activating signal cointegrator-2, peroxisome proliferator-activated receptor interacting protein	605299			NA	8724849, 8263591	Standard	NM_014071	NM_014071	NA	Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2762G>T	20.37:g.33337236C>A	ENSP00000363929:p.Arg921Leu	NA	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248337	0.80024	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.37584	1.19;1.19	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000008	T	0.51805	0.1696	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.47824	-0.9087	10	0.45353	T	0.12	-13.717	19.464	0.94931	0.0:1.0:0.0:0.0	.	921	Q14686	NCOA6_HUMAN	L	921	ENSP00000363929:R921L;ENSP00000351894:R921L	ENSP00000351894:R921L	R	-	2	0	NCOA6	32800897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.584000	0.87258	0.655000	0.94253	CGG	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078811.2		-	ENST00000374796.2	Missense_Mutation	SNP	20 : 33337236 - 33337236 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	885	7
NDUFV2	4729	broad.mit.edu	37	18	9126881	9126881	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:9126881G>A	ENST00000400033.1	+	8	758	c.641G>A	c.(640-642)gGc>gAc	p.G214D	RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.G211D			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	211					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CTCAAGGCTGGCAAAATCCCA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	147	139			NA	NA	18		NA											NA				9126881		2203	4300	6503	SO:0001583	missense			X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	4729	4729	1.6.5.3	Mitochondrial respiratory chain complex / Complex I	7717	protein-coding gene	gene with protein product	complex I 24kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial	600532	NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)		NA	9763677, 7607668	Standard	NM_021074	NM_021074	NA	Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000400033.1:c.641G>A	18.37:g.9126881G>A	ENSP00000382908:p.Gly214Asp	NA	Q9BV41	37		.	.	.	.	.	.	.	.	.	.	G	18.15	3.560585	0.65538	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.53206	0.63;0.63	5.41	5.41	0.78517	Thioredoxin-like fold (2);	0.045334	0.85682	D	0.000000	T	0.52805	0.1757	M	0.76328	2.33	0.80722	D	1	B	0.17465	0.022	B	0.22386	0.039	T	0.51474	-0.8701	10	0.48119	T	0.1	-9.1245	17.734	0.88387	0.0:0.0:1.0:0.0	.	211	P19404	NDUV2_HUMAN	D	211;214	ENSP00000327268:G211D;ENSP00000382908:G214D	ENSP00000327268:G211D	G	+	2	0	NDUFV2	9116881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.698000	0.98700	2.688000	0.91661	0.655000	0.94253	GGC	NDUFV2-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000258944.1		+	ENST00000400033.1	Missense_Mutation	SNP	18 : 9126881 - 9126881 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	892	7
NIPA1	123606	broad.mit.edu	37	15	23049053	23049053	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:23049053C>T	ENST00000437912.2	-	5	1838	c.541G>A	c.(541-543)Gac>Aac	p.D181N	NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000337435.4_Missense_Mutation_p.D256N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	256					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACCGAGGAGTCGAAGCACTCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	89	101			NA	NA	15		NA											NA				23049053		2203	4300	6503	SO:0001583	missense			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113	123606	123606			17043	protein-coding gene	gene with protein product		608145	spastic paraplegia 6 (autosomal dominant)	SPG6	NA	14508710	Standard	NM_144599	NM_144599	NA	Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000437912.2:c.541G>A	15.37:g.23049053C>T	ENSP00000393962:p.Asp181Asn	NA	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	37	CCDS45190.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929927	0.18131	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.87887	-2.31;-2.31;-2.31	5.46	5.46	0.80206	.	0.090329	0.85682	D	0.000000	T	0.78394	0.4276	N	0.04880	-0.145	0.47737	D	0.999502	D	0.67145	0.996	P	0.49561	0.615	T	0.76677	-0.2871	10	0.02654	T	1	-31.8615	19.2935	0.94112	0.0:1.0:0.0:0.0	.	256	Q7RTP0	NIPA1_HUMAN	N	256;181;86	ENSP00000337452:D256N;ENSP00000393962:D181N;ENSP00000440957:D86N	ENSP00000337452:D256N	D	-	1	0	NIPA1	20600494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.979000	0.56888	2.572000	0.86782	0.591000	0.81541	GAC	NIPA1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415890.1		-	ENST00000437912.2	Missense_Mutation	SNP	15 : 23049053 - 23049053 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	189	8
NKX2-5	1482	broad.mit.edu	37	5	172660081	172660081	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:172660081G>A	ENST00000424406.2	-	0	938				NKX2-5_ENST00000329198.4_Missense_Mutation_p.R156C|NKX2-5_ENST00000521848.1_3'UTR			P52952	NKX25_HUMAN	NK2 homeobox 5	NA					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTGAAGCGCCGCTCCAGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(72;810 1219 2387 13420 44943)							NA				0													16	14	15			NA	NA	5		NA											NA				172660081		2203	4296	6499	SO:0001624	3_prime_UTR_variant			AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072	NA	1482		Homeoboxes / ANTP class : NKL subclass	2488	protein-coding gene	gene with protein product	tinman paralog (Drosophila)	600584	cardiac-specific homeo box, NK2 transcription factor related, locus 5 (Drosophila)	CSX, NKX2E	NA	7665173, 8900537	Standard		NM_004387	NA	Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000424406.2:c.*419C>T	5.37:g.172660081G>A		NA	A8K3K0	37	CCDS54950.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038907	0.75617	.	.	ENSG00000183072	ENST00000329198	D	0.96136	-3.92	4.12	3.16	0.36331	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.52532	D	0.000063	D	0.96589	0.8887	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96214	0.9155	10	0.87932	D	0	.	11.6702	0.51396	0.0:0.0:0.7125:0.2875	.	156	P52952	NKX25_HUMAN	C	156	ENSP00000327758:R156C	ENSP00000327758:R156C	R	-	1	0	NKX2-5	172592687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.303000	0.51858	2.307000	0.77673	0.462000	0.41574	CGC	NKX2-5-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317804.3		-	ENST00000424406.2	3'UTR	SNP	5 : 172660081 - 172660081 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	64	8
OPRK1	4986	broad.mit.edu	37	8	54142191	54142191	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:54142191C>T	ENST00000265572.3	-	4	1106	c.809G>A	c.(808-810)cGt>cAt	p.R270H	OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	270					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGTGATCCTACGCAGGTTGCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	8		NA											NA				54142191		2203	4300	6503	SO:0001583	missense				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556	4986	4986		GPCR / Class A : Opioid receptors	8154	protein-coding gene	gene with protein product		165196			NA	8188308	Standard		XM_005251252	NA	Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.809G>A	8.37:g.54142191C>T	ENSP00000265572:p.Arg270His	NA	Q499G4	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017222	0.54576	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.73681	-0.77;-0.77;-0.77	5.8	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.047781	0.85682	D	0.000000	D	0.87176	0.6112	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89336	0.3650	10	0.87932	D	0	.	16.2563	0.82519	0.1338:0.8662:0.0:0.0	.	270	P41145	OPRK_HUMAN	H	270;181;270;256	ENSP00000265572:R270H;ENSP00000430923:R181H;ENSP00000429706:R270H	ENSP00000265572:R270H	R	-	2	0	OPRK1	54304744	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	7.818000	0.86416	1.433000	0.47394	-0.188000	0.12872	CGT	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378048.1		-	ENST00000265572.3	Missense_Mutation	SNP	8 : 54142191 - 54142191 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	179	7
OR2K2	26248	broad.mit.edu	37	9	114090184	114090184	+	Missense_Mutation	SNP	G	G	A	rs137871340	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:114090184G>A	ENST00000302681.1	-	1	529	c.530C>T	c.(529-531)aCg>aTg	p.T177M	OR2K2_ENST00000374428.1_Missense_Mutation_p.T206M	NM_205859.1	NP_995581.1	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATTTCACACGTGAAGTGATC	0.517		NA											G	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0014	0.9844	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													81	75	77			NA	NA	9		NA											NA				114090184		2203	4300	6503	SO:0001583	missense			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133	26248	26248		GPCR / Class A : Olfactory receptors	8264	protein-coding gene	gene with protein product				OR2AR1P	NA	1370859, 17010214	Standard	NM_205859	NM_205859	NA	Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000302681.1:c.530C>T	9.37:g.114090184G>A	ENSP00000305055:p.Thr177Met	NA	Q2TA61|Q5VYK4|Q6IFI5	37	CCDS6778.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.211	0.595400	0.13875	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00084	8.75;8.75	4.92	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000834	T	0.00144	0.0004	L	0.31926	0.97	0.18873	N	0.999982	D	0.89917	1.0	D	0.70716	0.97	T	0.52975	-0.8503	10	0.62326	D	0.03	.	3.5372	0.07798	0.2438:0.0:0.4545:0.3016	.	206	Q8NGT1	OR2K2_HUMAN	M	177;206	ENSP00000305055:T177M;ENSP00000363550:T206M	ENSP00000305055:T177M	T	-	2	0	OR2K2	113130005	0.000000	0.05858	0.023000	0.16930	0.086000	0.17979	0.148000	0.16224	0.096000	0.17463	-0.194000	0.12790	ACG	OR2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053636.1		-	ENST00000302681.1	Missense_Mutation	SNP	9 : 114090184 - 114090184 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	243	10
OSBPL11	114885	broad.mit.edu	37	3	125279224	125279224	+	Splice_Site	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:125279224C>A	ENST00000296220.5	-	8	1443	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	385					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTACTTACTCTTGTTAAATC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	138	145			NA	NA	3		NA											NA				125279224		2203	4300	6503	SO:0001630	splice_region_variant			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909	114885	114885		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16397	protein-coding gene	gene with protein product		606739			NA		Standard	NM_022776	NM_022776	NA	Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1155+1G>T	3.37:g.125279224C>A		NA	A8K9I7	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977820	0.74360	.	.	ENSG00000144909	ENST00000296220	T	0.34072	1.38	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.76451	-0.2954	10	0.87932	D	0	-26.5516	18.9367	0.92589	0.0:1.0:0.0:0.0	.	385	Q9BXB4	OSB11_HUMAN	I	385	ENSP00000296220:R385I	ENSP00000296220:R385I	R	-	2	0	OSBPL11	126761914	1.000000	0.71417	0.922000	0.36590	0.516000	0.34256	7.555000	0.82223	2.776000	0.95493	0.655000	0.94253	AGA	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356295.1	Missense_Mutation	-	ENST00000296220.5	Splice_Site	SNP	3 : 125279224 - 125279224 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	488	39
PCDH10	57575	broad.mit.edu	37	4	134073128	134073128	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073128C>T	ENST00000264360.5	+	1	2659	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGACGACGGCGAGAACGCCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	29			NA	NA	4		NA											NA				134073128		2132	4234	6366	SO:0001819	synonymous_variant			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1833C>T	4.37:g.134073128C>T		NA	Q4W5F6	37	CCDS34063.1																																																																																			PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Silent	SNP	4 : 134073128 - 134073128 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	213	5
PCDH15	65217	broad.mit.edu	37	10	55849770	55849770	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:55849770A>G	ENST00000373965.2	-	17	2386	c.1992T>C	c.(1990-1992)ccT>ccC	p.P664P	PCDH15_ENST00000414778.1_Silent_p.P662P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000373957.3_Silent_p.P635P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000320301.6_Silent_p.P657P|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P620P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	657	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAACTCTCTGAGGATCTCCAT	0.338		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	66	66			NA	NA	10		NA											NA				55849770		2203	4298	6501	SO:0001819	synonymous_variant			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.1992T>C	10.37:g.55849770A>G		NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37																																																																																				PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Silent	SNP	10 : 55849770 - 55849770 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	649	14
PCDHA2	56146	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140176038C>T	ENST00000520672.2	+	1	1595	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Missense_Mutation_p.R497W	NM_031496.1	NP_113684.1			protocadherin alpha 2	NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	5		NA											NA				140176038		2203	4300	6503	SO:0001583	missense			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969	56146	56146		Cadherins / Protocadherins : Clustered	8668	other	complex locus constituent	KIAA0345-like 12	606308			NA	10380929	Standard	NM_018905	NM_018905	NA	Approved			Q9Y5H9		ENST00000520672.2:c.1489C>T	5.37:g.140176038C>T	ENSP00000430584:p.Arg497Trp	NA		37		.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG	PCDHA2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000374265.2		+	ENST00000520672.2	Missense_Mutation	SNP	5 : 140176038 - 140176038 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	355	7
PCDHA9	9752	broad.mit.edu	37	5	140229544	140229544	+	Silent	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140229544C>G	ENST00000532602.1	+	1	2497	c.1464C>G	c.(1462-1464)gcC>gcG	p.A488A	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A488A|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1464C>G	5.37:g.140229544C>G		NA		37	CCDS54920.1																																																																																			PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Silent	SNP	5 : 140229544 - 140229544 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	663	166
PHIP	55023	broad.mit.edu	37	6	79711802	79711802	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:79711802G>A	ENST00000275034.4	-	17	1860	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	565					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACGAATAAGTGGCCGATAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	104	107			NA	NA	6		NA											NA				79711802		2203	4300	6503	SO:0001583	missense			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247	55023	55023		WD repeat domain containing, DDB1 and CUL4 associated factors	15673	protein-coding gene	gene with protein product	DDB1 and CUL4 associated factor 14	612870		WDR11	NA	11018022	Standard		NM_017934	NA	Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1693C>T	6.37:g.79711802G>A	ENSP00000275034:p.Leu565Phe	NA	B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950918	0.73787	.	.	ENSG00000146247	ENST00000275034	T	0.61392	0.11	5.63	4.75	0.60458	.	0.088632	0.45867	D	0.000337	T	0.77890	0.4198	M	0.92604	3.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.82327	-0.0512	9	.	.	.	-16.7819	14.5837	0.68310	0.074:0.0:0.926:0.0	.	565;565	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	565	ENSP00000275034:L565F	.	L	-	1	0	PHIP	79768521	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.205000	0.72148	2.799000	0.96334	0.650000	0.86243	CTT	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041297.2		-	ENST00000275034.4	Missense_Mutation	SNP	6 : 79711802 - 79711802 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	225	20
PLEC	5339	broad.mit.edu	37	8	144995483	144995483	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144995483C>T	ENST00000322810.4	-	32	9086	c.8917G>A	c.(8917-8919)Gac>Aac	p.D2973N	PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2973	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCGTCGAAGTAGCCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)						C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	3,4015		0,3,2006	63	70	68		8587,8464,8440,8917,8410,8506,8518,8506	3.2	1	8		68	20,8308		0,20,4144	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	23,23,23,23,23,23,23,23	0,23,6150	TT,TC,CC	NA	0.2402,0.0747,0.1863	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2863/4575,2822/4534,2814/4526,2973/4685,2804/4516,2836/4548,2840/4552,2836/4548	144995483	23,12323	2009	4164	6173	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8917G>A	8.37:g.144995483C>T	ENSP00000323856:p.Asp2973Asn	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128415	0.37533	7.47E-4	0.002402	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	4.95	3.16	0.36331	.	0.000000	0.64402	U	0.000004	T	0.73024	0.3534	L	0.46885	1.475	0.51767	D	0.999934	B;B;B;B;B;B;B;B	0.33826	0.295;0.427;0.427;0.343;0.427;0.427;0.295;0.295	B;B;B;B;B;B;B;B	0.32393	0.089;0.089;0.089;0.145;0.089;0.089;0.089;0.089	T	0.70568	-0.4836	10	0.52906	T	0.07	.	11.4324	0.50050	0.0:0.85:0.0:0.15	.	2863;2822;2814;2973;2804;2836;2840;2836	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	2836;2840;2836;2804;2973;2814;2822;2863;2859	ENSP00000344848:D2836N;ENSP00000350277:D2840N;ENSP00000346602:D2836N;ENSP00000381756:D2804N;ENSP00000323856:D2973N;ENSP00000347044:D2814N;ENSP00000348702:D2822N;ENSP00000388180:D2863N;ENSP00000434583:D2859N	ENSP00000323856:D2973N	D	-	1	0	PLEC	145067471	0.998000	0.40836	0.995000	0.50966	0.660000	0.38997	3.898000	0.56281	0.642000	0.30620	-0.366000	0.07423	GAC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144995483 - 144995483 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	567	167
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM050309	PLEC	M	rs137853161						20	24	22			NA	NA	8		NA											NA				144994985		2052	4156	6208	SO:0001587	stop_gained			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9415C>T	8.37:g.144994985G>A	ENSP00000323856:p.Arg3139*	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.377758	0.99832	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.6	3.71	0.42584	.	0.750881	0.11464	U	0.561429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.7863	0.63112	0.0:0.1557:0.8443:0.0	.	.	.	.	X	3002;3006;3002;2970;3139;2980;2988;3029;3025	.	ENSP00000323856:R3139X	R	-	1	2	PLEC	145066973	0.864000	0.29904	0.748000	0.31131	0.005000	0.04900	2.894000	0.48640	1.042000	0.40150	0.448000	0.29417	CGA	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Nonsense_Mutation	SNP	8 : 144994985 - 144994985 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	244	13
PLEKHG1	57480	broad.mit.edu	37	6	151121938	151121938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:151121938C>A	ENST00000358517.2	+	6	924	c.713C>A	c.(712-714)tCg>tAg	p.S238*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.S238*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	238	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGAAACACTCGCTGCCTCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	120			NA	NA	6		NA											NA				151121938		2203	4300	6503	SO:0001587	stop_gained			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278	57480	57480		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20884	protein-coding gene	gene with protein product					NA	10574462	Standard		XM_005267064	NA	Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.713C>A	6.37:g.151121938C>A	ENSP00000351318:p.Ser238*	NA	Q5T1F2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.723855	0.98453	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	6.16	5.3	0.74995	.	0.053244	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4253	0.75045	0.0:0.934:0.0:0.066	.	.	.	.	X	238	.	ENSP00000351318:S238X	S	+	2	0	PLEKHG1	151163631	1.000000	0.71417	0.837000	0.33122	0.491000	0.33493	7.818000	0.86416	1.623000	0.50342	0.650000	0.86243	TCG	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042691.1		+	ENST00000358517.2	Nonsense_Mutation	SNP	6 : 151121938 - 151121938 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	332	6
PNLIPRP3	119548	broad.mit.edu	37	10	118203960	118203960	+	Missense_Mutation	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:118203960A>C	ENST00000369230.3	+	4	537	c.391A>C	c.(391-393)Atc>Ctc	p.I131L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	131					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACGGGAATACATCCATGCTGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	160	163			NA	NA	10		NA											NA				118203960		2203	4300	6503	SO:0001583	missense			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	119548	119548	3.1.1.3		23492	protein-coding gene	gene with protein product					NA		Standard	XM_058404	NM_001011709	NA	Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.391A>C	10.37:g.118203960A>C	ENSP00000358232:p.Ile131Leu	NA		37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117608	0.37339	.	.	ENSG00000203837	ENST00000369230	D	0.90620	-2.7	5.28	-0.352	0.12598	Lipase, N-terminal (1);	0.753542	0.11427	N	0.565260	T	0.82070	0.4957	L	0.33668	1.02	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.69435	-0.5146	10	0.66056	D	0.02	.	2.765	0.05317	0.6175:0.1526:0.1158:0.114	.	131	Q17RR3	LIPR3_HUMAN	L	131	ENSP00000358232:I131L	ENSP00000358232:I131L	I	+	1	0	PNLIPRP3	118193950	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.284000	0.18864	-0.211000	0.10124	0.482000	0.46254	ATC	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050520.1		+	ENST00000369230.3	Missense_Mutation	SNP	10 : 118203960 - 118203960 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	534	10
POLR2A	5430	broad.mit.edu	37	17	7416998	7416998	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:7416998C>T	ENST00000322644.6	+	29	5814	c.5415C>T	c.(5413-5415)tcC>tcT	p.S1805S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1805	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAAGTTACTCCCCTTCCAGCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													468	447	454			NA	NA	17		NA											NA				7416998		2203	4300	6503	SO:0001819	synonymous_variant					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	5430	5430	2.7.7.6	RNA polymerase subunits	9187	protein-coding gene	gene with protein product	DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit, RNA polymerase II subunit B1	180660	polymerase (RNA) II (DNA directed) polypeptide A (220kD)	POLR2	NA		Standard	NM_000937	NM_000937	NA	Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5415C>T	17.37:g.7416998C>T		NA	A6NN93|B9EH88	37	CCDS32548.1																																																																																			POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437967.1		+	ENST00000322644.6	Silent	SNP	17 : 7416998 - 7416998 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	997	121
PPFIA1	8500	broad.mit.edu	37	11	70171012	70171012	+	Silent	SNP	C	C	A	rs144282210	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:70171012C>A	ENST00000253925.7	+	4	641	c.426C>A	c.(424-426)acC>acA	p.T142T	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	142					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.T142T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTAGGATGACCGTGGTGAAGA	0.473		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)											132	137	135			NA	NA	11		NA											NA				70171012		2200	4294	6494	SO:0001819	synonymous_variant			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626	8500	8500		Sterile alpha motif (SAM) domain containing	9245	protein-coding gene	gene with protein product	Liprin-alpha1	611054			NA	7796809, 9624153	Standard	NM_003626	NM_003626	NA	Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.426C>A	11.37:g.70171012C>A		NA	A6NLE3|Q13135|Q14567|Q8N4I2	37	CCDS31627.1																																																																																			PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393905.1		+	ENST00000253925.7	Silent	SNP	11 : 70171012 - 70171012 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	765	8
PPP2R1A	5518	broad.mit.edu	37	19	52714630	52714630	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52714630C>T	ENST00000322088.6	+	4	446	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	130	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.			P -> A (in Ref. 1; AAA35531).	ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCACTTTGTGCCGCTAGTGAA	0.657		NA	Mis		clear cell ovarian carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0													62	66	65			NA	NA	19		NA											NA				52714630		2203	4300	6503	SO:0001583	missense				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	5518	5518	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9302	protein-coding gene	gene with protein product	protein phosphatase 2A, regulatory subunit A, alpha isoform, protein phosphatase 2, 65kDa regulatory subunit A	605983	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform		NA		Standard	NM_014225	NR_033500	NA	Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.388C>T	19.37:g.52714630C>T	ENSP00000324804:p.Pro130Ser	NA	Q13773|Q6ICQ3|Q96DH3	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624587	0.46840	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.35973	1.28;1.28	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.43897	0.1268	M	0.85373	2.75	0.58432	D	0.999999	P;P;P	0.37233	0.493;0.588;0.588	B;B;B	0.34301	0.179;0.102;0.102	T	0.56757	-0.7926	10	0.66056	D	0.02	-36.5931	15.0187	0.71609	0.0:1.0:0.0:0.0	.	75;130;130	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	S	120;130;75	ENSP00000324804:P130S;ENSP00000415067:P75S	ENSP00000324804:P130S	P	+	1	0	PPP2R1A	57406442	1.000000	0.71417	0.994000	0.49952	0.038000	0.13279	6.787000	0.75099	2.482000	0.83794	0.655000	0.94253	CCG	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000267967.2		+	ENST00000322088.6	Missense_Mutation	SNP	19 : 52714630 - 52714630 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	370	5
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:43411250G>A	ENST00000402603.4	-	4	874	c.785C>T	c.(784-786)gCg>gTg	p.A262V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V					pregnancy specific beta-1-glycoprotein 6	NA										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	196	192			NA	NA	19		NA											NA				43411250		2201	4299	6500	SO:0001583	missense				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848	5675	5675		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9523	protein-coding gene	gene with protein product		176395			NA	1690992	Standard	NM_002782	NM_002782	NA	Approved			Q00889	OTTHUMG00000151127	ENST00000402603.4:c.785C>T	19.37:g.43411250G>A	ENSP00000385736:p.Ala262Val	NA		37		.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG	PSG6-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321437.2		-	ENST00000402603.4	Missense_Mutation	SNP	19 : 43411250 - 43411250 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1079	8
PSMB4	5692	broad.mit.edu	37	1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	169	168			NA	NA	1		NA											NA				151372581		2203	4300	6503	SO:0001587	stop_gained			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377	5692	5692		Proteasome (prosome, macropain) subunits	9541	protein-coding gene	gene with protein product		602177			NA	7918633	Standard	NM_002796	NM_002796	NA	Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.265C>T	1.37:g.151372581C>T	ENSP00000290541:p.Arg89*	NA	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	37	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459609	0.84317	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.34	2.32	0.28847	.	0.261003	0.36703	N	0.002445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.0211	13.7733	0.63038	0.6506:0.3494:0.0:0.0	.	.	.	.	X	89	.	ENSP00000290541:R89X	R	+	1	2	PSMB4	149639205	0.998000	0.40836	0.954000	0.39281	0.610000	0.37248	0.845000	0.27668	0.197000	0.20387	-0.314000	0.08810	CGA	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034885.1		+	ENST00000290541.6	Nonsense_Mutation	SNP	1 : 151372581 - 151372581 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1110	7
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)						G	VAL/ALA	0,4406		0,0,2203	137	134	135		1406	5.7	0.9	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB3GAP2	NM_012414.3	64	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	469/1394	220364491	2,13004	2203	4300	6503	SO:0001583	missense			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873	25782	25782			17168	protein-coding gene	gene with protein product		609275			NA	15696165, 16532399, 24482476	Standard	NM_012414	NM_012414	NA	Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1406C>T	1.37:g.220364491G>A	ENSP00000351832:p.Ala469Val	NA	O75872|Q9HAB0|Q9UFJ7|Q9UQ15	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	RAB3GAP2	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090205.2		-	ENST00000358951.2	Missense_Mutation	SNP	1 : 220364491 - 220364491 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	611	6
RBP3	5949	broad.mit.edu	37	10	48388910	48388910	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	656	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	19	18			NA	NA	10		NA											NA				48388910		2198	4286	6484	SO:0001819	synonymous_variant			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203	5949	5949			9921	protein-coding gene	gene with protein product		180290	retinol-binding protein 3, interstitial		NA		Standard	NM_002900	NM_002900	NA	Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1968C>T	10.37:g.48388910G>A		NA	Q5VSR0	37	CCDS7218.1																																																																																			RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047888.1		-	ENST00000224600.4	Silent	SNP	10 : 48388910 - 48388910 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	111	17
RDX	5962	broad.mit.edu	37	11	110108333	110108333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:110108333G>A	ENST00000528498.1	-	11	1444	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000343115.4_Nonsense_Mutation_p.R379*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*	NM_001260493.1	NP_001247422.1	P35241	RADI_HUMAN	radixin	379	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCTCGTTTTCGTTCTTGATCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(55;25 1062 11040 28755 44273)							NA				0													183	175	177			NA	NA	11		NA											NA				110108333		2201	4298	6499	SO:0001587	stop_gained			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710	5962	5962			9944	protein-coding gene	gene with protein product		179410	deafness, autosomal recessive 24	DFNB24	NA	8486357, 17226784	Standard	NM_002906	NM_001260492	NA	Approved		uc031qdy.1	P35241		ENST00000528498.1:c.1135C>T	11.37:g.110108333G>A	ENSP00000432112:p.Arg379*	NA	Q86Y61	37	CCDS58174.1	.	.	.	.	.	.	.	.	.	.	G	41	8.635797	0.98895	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	3.73	0.42828	.	0.148841	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.0536	0.64754	0.0:0.0:0.6747:0.3253	.	.	.	.	X	379;379;32;379;243;49	.	ENSP00000342830:R379X	R	-	1	2	RDX	109613543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.730000	0.93505	0.650000	0.86243	CGA	RDX-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390531.1		-	ENST00000528498.1	Nonsense_Mutation	SNP	11 : 110108333 - 110108333 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	716	58
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	1135	9
RIMBP2	23504	broad.mit.edu	37	12	130923011	130923011	+	Missense_Mutation	SNP	C	C	T	rs148796071	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130923011C>T	ENST00000261655.4	-	9	1667	c.1504G>A	c.(1504-1506)Gcc>Acc	p.A502T	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A410T|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A410T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	502	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGATGGTGGCGGGGGTCACC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	2,4402	4.2+/-10.8	0,2,2200	33	31	32		1504	2.1	0	12	dbSNP_134	32	8,8588	6.4+/-24.3	0,8,4290	yes	missense	RIMBP2	NM_015347.4	58	0,10,6490	TT,TC,CC	NA	0.0931,0.0454,0.0769	benign	502/1053	130923011	10,12990	2202	4298	6500	SO:0001583	missense			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709	23504	23504			30339	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 133	611602			NA	10748113	Standard	NM_015347	NM_015347	NA	Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1504G>A	12.37:g.130923011C>T	ENSP00000261655:p.Ala502Thr	NA	Q96ID2	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389047	0.42410	4.54E-4	9.31E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.29917	1.55;1.55;1.55	4.99	2.13	0.27403	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.252187	0.39985	N	0.001202	T	0.26268	0.0641	L	0.57536	1.79	0.19300	N	0.999974	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.20075	-1.0286	10	0.44086	T	0.13	-8.8379	6.9036	0.24297	0.1423:0.7071:0.0:0.1505	.	410;410;502	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	T	502;410;410;410	ENSP00000261655:A502T;ENSP00000440347:A410T;ENSP00000439159:A410T	ENSP00000261655:A502T	A	-	1	0	RIMBP2	129488964	0.402000	0.25311	0.001000	0.08648	0.488000	0.33401	2.492000	0.45311	0.148000	0.19059	0.555000	0.69702	GCC	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399520.1		-	ENST00000261655.4	Missense_Mutation	SNP	12 : 130923011 - 130923011 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	92	27
RNF41	10193	broad.mit.edu	37	12	56600246	56600246	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:56600246G>A	ENST00000345093.4	-	7	1308	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RNF41_ENST00000394013.2_Silent_p.G242G|RNF41_ENST00000552656.1_Silent_p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	313					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTCTTCCACGCCATGCGCAA	0.522		NA									OREG0021921	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													173	167	169			NA	NA	12		NA											NA				56600246		2203	4300	6503	SO:0001819	synonymous_variant			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852	10193	10193		RING-type (C3HC4) zinc fingers	18401	protein-coding gene	gene with protein product			ring finger protein 41		NA		Standard	NM_005785	NM_005785	NA	Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.939C>T	12.37:g.56600246G>A		1016	B2RBT8|O75598	37	CCDS8909.1																																																																																			RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408525.1		-	ENST00000345093.4	Silent	SNP	12 : 56600246 - 56600246 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	690	53
RNF43	54894	broad.mit.edu	37	17	56435359	56435359	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56435359G>A	ENST00000584437.1	-	8	3733	c.1778C>T	c.(1777-1779)tCt>tTt	p.S593F	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.S466F|RNF43_ENST00000577716.1_Missense_Mutation_p.S593F|RNF43_ENST00000500597.2_Missense_Mutation_p.S552F|RNF43_ENST00000407977.2_Missense_Mutation_p.S593F|RNF43_ENST00000581868.1_Missense_Mutation_p.S466F|RNF43_ENST00000583753.1_Missense_Mutation_p.S552F			Q68DV7	RNF43_HUMAN	ring finger protein 43	593	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGATCAGGAGAAGGTGGCTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	78	74			NA	NA	17		NA											NA				56435359		2201	4300	6501	SO:0001583	missense				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1778C>T	17.37:g.56435359G>A	ENSP00000463069:p.Ser593Phe	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	5.168	0.216617	0.09810	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.21031	2.03;2.03	4.66	3.65	0.41850	.	1.839710	0.02178	N	0.060263	T	0.17280	0.0415	N	0.24115	0.695	0.09310	N	1	B;B;B	0.14012	0.001;0.009;0.0	B;B;B	0.14023	0.005;0.01;0.002	T	0.19224	-1.0312	10	0.59425	D	0.04	-13.7741	5.2898	0.15721	0.1836:0.0:0.8164:0.0	.	552;593;593	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	F	593;552	ENSP00000385328:S593F;ENSP00000441969:S552F	ENSP00000385328:S593F	S	-	2	0	RNF43	53790358	0.633000	0.27181	0.009000	0.14445	0.257000	0.26127	3.840000	0.55843	1.049000	0.40321	0.205000	0.17691	TCT	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Missense_Mutation	SNP	17 : 56435359 - 56435359 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	480	56
RNF43	54894	broad.mit.edu	37	17	56435356	56435356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56435356delG	ENST00000584437.1	-	8	3736	c.1781delC	c.(1780-1782)cctfs	p.P594fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.P594fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.P553fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.P594fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.P553fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	594	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGCTGATCAGGAGAAGGTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	77	73			NA	NA	17		NA											NA				56435356		2201	4300	6501	SO:0001589	frameshift_variant				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1781delC	17.37:g.56435356delG	ENSP00000463069:p.Pro594fs	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1																																																																																			RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Frame_Shift_Del	DEL	17 : 56435356 - 56435356 - PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	413	53
RNF43	54894	broad.mit.edu	37	17	56434978	56434978	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56434978G>A	ENST00000584437.1	-	8	4114	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L|RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L			Q68DV7	RNF43_HUMAN	ring finger protein 43	720	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGAATTTGAGTAACAGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	88	86			NA	NA	17		NA											NA				56434978		2203	4300	6503	SO:0001583	missense				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2159C>T	17.37:g.56434978G>A	ENSP00000463069:p.Ser720Leu	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720039	0.48728	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08807	3.19;3.05	5.71	5.71	0.89125	.	0.652107	0.13771	N	0.363914	T	0.10337	0.0253	N	0.19112	0.55	0.25753	N	0.985036	B;P;B	0.41131	0.13;0.739;0.079	B;P;B	0.45232	0.149;0.474;0.071	T	0.20940	-1.0260	10	0.66056	D	0.02	-8.0908	15.33	0.74200	0.0:0.0:1.0:0.0	.	679;720;720	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	720;679	ENSP00000385328:S720L;ENSP00000441969:S679L	ENSP00000385328:S720L	S	-	2	0	RNF43	53789977	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	3.986000	0.56937	2.698000	0.92095	0.511000	0.50034	TCA	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Missense_Mutation	SNP	17 : 56434978 - 56434978 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	344	39
RNF43	54894	broad.mit.edu	37	17	56448366	56448366	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56448366C>A	ENST00000584437.1	-	2	2236	c.281G>T	c.(280-282)aGt>aTt	p.S94I	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000583753.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	94						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCGTCATCACTGGCATTGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	71	76			NA	NA	17		NA											NA				56448366		2203	4300	6503	SO:0001583	missense				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.281G>T	17.37:g.56448366C>A	ENSP00000463069:p.Ser94Ile	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006071	0.93287	.	.	ENSG00000108375	ENST00000407977	T	0.47177	0.85	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.27053	0.805	0.80722	D	1	D	0.57257	0.979	P	0.60415	0.874	T	0.41787	-0.9489	10	0.22706	T	0.39	-22.6639	18.2765	0.90085	0.0:1.0:0.0:0.0	.	94	Q68DV7	RNF43_HUMAN	I	94	ENSP00000385328:S94I	ENSP00000385328:S94I	S	-	2	0	RNF43	53803365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.495000	0.73665	2.555000	0.86185	0.655000	0.94253	AGT	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Missense_Mutation	SNP	17 : 56448366 - 56448366 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	195	67
RPL36	25873	broad.mit.edu	37	19	5691442	5691442	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:5691442C>T	ENST00000577222.1	+	5	750	c.206C>T	c.(205-207)gCc>gTc	p.A69V	RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V|RPL36_ENST00000579649.1_Missense_Mutation_p.A69V|RPL36_ENST00000579446.1_Missense_Mutation_p.A69V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	69					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						GACAAACGGGCCCTCAAATTT	0.642		NA									OREG0025183	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													44	49	47			NA	NA	19		NA											NA				5691442		2203	4299	6502	SO:0001583	missense				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255	25873	25873		L ribosomal proteins	13631	protein-coding gene	gene with protein product					NA		Standard	NM_015414	NM_033643	NA	Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.206C>T	19.37:g.5691442C>T	ENSP00000464342:p.Ala69Val	628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	37	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311575	0.81358	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.60920	0.15;0.15	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	T	0.77850	0.4192	H	0.95574	3.69	0.80722	D	1	P	0.48503	0.911	P	0.53360	0.724	D	0.85194	0.1011	10	0.72032	D	0.01	.	14.0553	0.64764	0.0:1.0:0.0:0.0	.	69	Q9Y3U8	RL36_HUMAN	V	69	ENSP00000252543:A69V;ENSP00000378081:A69V	ENSP00000252543:A69V	A	+	2	0	RPL36	5642442	1.000000	0.71417	0.959000	0.39883	0.303000	0.27691	7.568000	0.82369	1.881000	0.54492	0.467000	0.42956	GCC	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442561.1		+	ENST00000577222.1	Missense_Mutation	SNP	19 : 5691442 - 5691442 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	383	7
RPS6KA5	9252	broad.mit.edu	37	14	91372565	91372565	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:91372565C>T	ENST00000556304.1	-	0	248				RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000261991.3_Missense_Mutation_p.M295I			O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	NA					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGGGATCTTTCATCAAAAGAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	106	108			NA	NA	14		NA											NA				91372565		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784	9252	9252			10434	protein-coding gene	gene with protein product		603607	ribosomal protein S6 kinase, 90kD, polypeptide 5		NA	9687510, 10702687	Standard	NM_004755	NM_004755	NA	Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000556304.1:c.-30G>A	14.37:g.91372565C>T		NA	O95316|Q96AF7	37		.	.	.	.	.	.	.	.	.	.	C	12.75	2.031697	0.35797	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239079	0.49916	D	0.000136	T	0.24812	0.0602	N	0.03999	-0.3	0.41859	D	0.990216	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09292	-1.0681	10	0.35671	T	0.21	.	9.9904	0.41868	0.0:0.8486:0.0:0.1514	.	295;295	O75582-2;O75582	.;KS6A5_HUMAN	I	295;216;295	ENSP00000261991:M295I;ENSP00000442803:M216I;ENSP00000402787:M295I	ENSP00000261991:M295I	M	-	3	0	RPS6KA5	90442318	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.240000	0.32731	2.640000	0.89533	0.585000	0.79938	ATG	RPS6KA5-007	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000411481.1		-	ENST00000556304.1	5'UTR	SNP	14 : 91372565 - 91372565 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	406	6
RPS6KA6	27330	broad.mit.edu	37	X	83362013	83362013	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:83362013G>C	ENST00000262752.2	-	14	1154	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	383	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGAAGAGCTGATGAGCATTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	66	68			NA	NA	X		NA											NA				83362013		2203	4300	6503	SO:0001583	missense			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133	27330	27330			10435	protein-coding gene	gene with protein product		300303	ribosomal protein S6 kinase, 90kD, polypeptide 6		NA	10644430	Standard	NM_014496	NM_014496	NA	Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1147C>G	X.37:g.83362013G>C	ENSP00000262752:p.Gln383Glu	NA	B2R854|Q6FHX2|Q8WX28|Q9H4S6	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280893	0.23392	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.50548	0.74;0.74	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.115806	0.64402	D	0.000014	T	0.26738	0.0654	N	0.04148	-0.265	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.18263	0.021;0.015	T	0.12243	-1.0555	10	0.09843	T	0.71	.	17.563	0.87912	0.0:0.0:1.0:0.0	.	383;383	B7ZL90;Q9UK32	.;KS6A6_HUMAN	E	383	ENSP00000262752:Q383E;ENSP00000440830:Q383E	ENSP00000262752:Q383E	Q	-	1	0	RPS6KA6	83248669	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.577000	0.82486	2.162000	0.67917	0.600000	0.82982	CAG	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057372.1		-	ENST00000262752.2	Missense_Mutation	SNP	X : 83362013 - 83362013 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	341	24
RPS6KC1	26750	broad.mit.edu	37	1	213415604	213415604	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213415604G>T	ENST00000366960.3	+	11	2935	c.2785G>T	c.(2785-2787)Gat>Tat	p.D929Y	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	929	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGTGTGCCGCGATTTGAACCC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	92	90			NA	NA	1		NA											NA				213415604		2192	4293	6485	SO:0001583	missense			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643	26750	26750			10439	protein-coding gene	gene with protein product			ribosomal protein S6 kinase, 52kD, polypeptide 1		NA	10552933	Standard	NM_012424	XM_005273095	NA	Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2785G>T	1.37:g.213415604G>T	ENSP00000355927:p.Asp929Tyr	NA	B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653057	0.67472	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098052	0.64402	D	0.000002	D	0.98191	0.9402	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	-14.4772	19.9598	0.97242	0.0:0.0:1.0:0.0	.	717;929;917	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	Y	717;929;917;632	ENSP00000442306:D717Y;ENSP00000355927:D929Y;ENSP00000355926:D917Y;ENSP00000439282:D632Y	ENSP00000355926:D917Y	D	+	1	0	RPS6KC1	211482227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.716000	0.92895	0.655000	0.94253	GAT	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089690.3		+	ENST00000366960.3	Missense_Mutation	SNP	1 : 213415604 - 213415604 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	877	11
SAMD9L	219285	broad.mit.edu	37	7	92764937	92764937	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:92764937T>C	ENST00000318238.4	-	5	1564	c.348A>G	c.(346-348)tcA>tcG	p.S116S	SAMD9L_ENST00000437805.1_Silent_p.S116S|SAMD9L_ENST00000411955.1_Silent_p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	116										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAATATTAGATGACATTGAAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	118	114			NA	NA	7		NA											NA				92764937		2203	4300	6503	SO:0001819	synonymous_variant			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409	219285	219285		Sterile alpha motif (SAM) domain containing	1349	protein-coding gene	gene with protein product		611170	chromosome 7 open reading frame 6	C7orf6	NA		Standard	NM_152703	NM_152703	NA	Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.348A>G	7.37:g.92764937T>C		NA	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	37	CCDS34681.1																																																																																			SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341730.1		-	ENST00000318238.4	Silent	SNP	7 : 92764937 - 92764937 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	442	138
SEMA4C	54910	broad.mit.edu	37	2	97527586	97527586	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97527586C>T	ENST00000305476.5	-	13	1621	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	497	Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CAGTCGGCCACGGGCAGCTGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	19	19			NA	NA	2		NA											NA				97527586		2201	4298	6499	SO:0001583	missense			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758	54910	54910		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10731	protein-coding gene	gene with protein product	M-Sema F	604462		SEMAI	NA	7656991	Standard	NM_017789	NM_017789	NA	Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1489G>A	2.37:g.97527586C>T	ENSP00000306844:p.Val497Met	NA	Q32MJ3|Q7Z5X0	37	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906697	0.33628	.	.	ENSG00000168758	ENST00000305476	T	0.36340	1.26	4.93	1.01	0.19927	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.261632	0.33075	N	0.005317	T	0.22085	0.0532	L	0.28649	0.875	0.20489	N	0.999892	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.14868	-1.0457	10	0.52906	T	0.07	.	5.9613	0.19301	0.2318:0.4117:0.3565:0.0	.	497;207	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	M	497	ENSP00000306844:V497M	ENSP00000306844:V497M	V	-	1	0	SEMA4C	96891313	1.000000	0.71417	0.960000	0.40013	0.749000	0.42624	0.770000	0.26618	0.274000	0.22072	-0.232000	0.12228	GTG	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252957.1		-	ENST00000305476.5	Missense_Mutation	SNP	2 : 97527586 - 97527586 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	134	8
SGSM3	27352	broad.mit.edu	37	22	40797636	40797636	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:40797636C>G	ENST00000248929.9	+	3	236	c.47C>G	c.(46-48)aCt>aGt	p.T16S	SGSM3_ENST00000454798.2_Intron	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	16					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAGCCCTGACTCCGAGCATA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	136	138			NA	NA	22		NA											NA				40797636		2203	4300	6503	SO:0001583	missense			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359	27352	27352		Small G protein signaling modulators	25228	protein-coding gene	gene with protein product	RUN and SH3 containing 3	610440	RUN and TBC1 domain containing 3	RUTBC3	NA	11214971, 17509819	Standard	NM_015705	XM_005261572	NA	Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.47C>G	22.37:g.40797636C>G	ENSP00000248929:p.Thr16Ser	NA	B0QY79|Q7Z709|Q9NT69	37	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814574	0.90790	.	.	ENSG00000100359	ENST00000248929	T	0.13901	2.55	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.71581	2.175	0.80722	D	1	P;P;P	0.48230	0.887;0.907;0.907	P;B;B	0.52217	0.693;0.437;0.437	T	0.01045	-1.1470	10	0.54805	T	0.06	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	16;16;16	Q96HU1-2;B9A6J5;Q96HU1	.;.;SGSM3_HUMAN	S	16	ENSP00000248929:T16S	ENSP00000248929:T16S	T	+	2	0	SGSM3	39127582	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.973000	0.76116	2.749000	0.94314	0.655000	0.94253	ACT	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321504.2		+	ENST00000248929.9	Missense_Mutation	SNP	22 : 40797636 - 40797636 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	396	125
SLC35G5	83650	broad.mit.edu	37	8	11188791	11188791	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11188791G>A	ENST00000382435.4	+	1	395	c.176G>A	c.(175-177)cGt>cAt	p.R59H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	59	DUF6 1.					integral to membrane					NA						CCCCTTTCTCGTATGGCTTAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	111	109	110		176	0.3	0.9	8		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35G5	NM_054028.1	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	59/339	11188791	1,13005	2203	4300	6503	SO:0001583	missense			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710	83650	83650		Solute carriers	15546	protein-coding gene	gene with protein product		615199	acyl-malonyl condensing enzyme 1-like 2	AMAC, AMAC1L2	NA		Standard	NM_054028	NM_054028	NA	Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.176G>A	8.37:g.11188791G>A	ENSP00000371872:p.Arg59His	NA	A2RRL6	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814400	0.32053	0.0	1.16E-4	ENSG00000177710	ENST00000382435	T	0.54279	0.58	0.34	0.34	0.15985	.	0.000000	0.45867	D	0.000330	T	0.35068	0.0919	L	0.32530	0.975	0.41837	D	0.990104	B	0.12013	0.005	B	0.14023	0.01	T	0.10451	-1.0629	10	0.41790	T	0.15	-1.8351	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	59	Q96KT7	S35G5_HUMAN	H	59	ENSP00000371872:R59H	ENSP00000371872:R59H	R	+	2	0	SLC35G5	11226201	0.908000	0.30866	0.916000	0.36221	0.263000	0.26337	3.696000	0.54757	0.426000	0.26116	0.089000	0.15464	CGT	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207313.2		+	ENST00000382435.4	Missense_Mutation	SNP	8 : 11188791 - 11188791 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	434	8
SLC6A1	6529	broad.mit.edu	37	3	11058924	11058924	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:11058924C>T	ENST00000287766.4	+	3	448	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_3'UTR|SLC6A1_ENST00000536032.1_5'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	9					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAAGGTGGCCGACGGGCAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	3		NA											NA				11058924		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103	6529	6529		Solute carriers	11042	protein-coding gene	gene with protein product	GABA transporter 1	137165	solute carrier family 6 (neurotransmitter transporter, GABA), member 1		NA	8530094	Standard	NM_003042	NM_003042	NA	Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.27C>T	3.37:g.11058924C>T		NA	Q8N4K8	37	CCDS2603.1																																																																																			SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102767.2		+	ENST00000287766.4	Silent	SNP	3 : 11058924 - 11058924 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	150	7
SSX9	280660	broad.mit.edu	37	X	48161191	48161191	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:48161191C>T	ENST00000608568.1	-	0	373					NR_073393.1				synovial sarcoma, X breakpoint 9	NA										breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						CATCTGAGAACGTTCAACTGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	120	123			NA	NA	X		NA											NA				48161191		2203	4299	6502					BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648	280660	280660			19655	other	unknown		300544			NA	12216073	Standard	NR_073393	NR_073393	NA	Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490	ENST00000608568.1:	X.37:g.48161191C>T		NA		37		.	.	.	.	.	.	.	.	.	.	c	1.372	-0.585823	0.03827	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	T;T	0.08720	3.06;3.06	1.21	0.252	0.15545	.	2.729110	0.01808	N	0.033290	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.35001	-0.9806	9	0.13108	T	0.6	.	4.7519	0.13064	0.0:0.4129:0.5871:0.0	.	96	Q7RTT3	SSX9_HUMAN	H	96	ENSP00000366107:R96H;ENSP00000385293:R96H	ENSP00000366107:R96H	R	-	2	0	SSX9	48046135	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-1.059000	0.03479	0.012000	0.14892	0.171000	0.16805	CGT	SSX9-002	KNOWN	basic	retained_intron	NA	pseudogene	OTTHUMT00000472372.1		-	ENST00000608568.1	RNA	SNP	X : 48161191 - 48161191 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	833	7
TCERG1	10915	broad.mit.edu	37	5	145851118	145851118	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:145851118C>A	ENST00000296702.5	+	9	1618	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	124	124			NA	NA	5		NA											NA				145851118		2203	4300	6503	SO:0001583	missense			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1580C>A	5.37:g.145851118C>A	ENSP00000296702:p.Ala527Asp	NA	Q2NKN2|Q59EA1	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095411	0.56075	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.44482	0.92;0.92	5.63	5.63	0.86233	.	0.094736	0.64402	D	0.000001	T	0.30978	0.0782	N	0.08118	0	0.31301	N	0.688266	P;P;B	0.42649	0.786;0.762;0.041	B;B;B	0.43082	0.407;0.242;0.003	T	0.15263	-1.0443	10	0.30078	T	0.28	-8.6494	19.6756	0.95930	0.0:1.0:0.0:0.0	.	506;506;527	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	D	527;506	ENSP00000296702:A527D;ENSP00000377943:A506D	ENSP00000296702:A527D	A	+	2	0	TCERG1	145831311	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	4.739000	0.62080	2.664000	0.90586	0.313000	0.20887	GCT	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Missense_Mutation	SNP	5 : 145851118 - 145851118 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	525	5
TENM2	57451	broad.mit.edu	37	5	167626955	167626955	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:167626955G>A	ENST00000520394.1	+	14	2604	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000519204.1_Silent_p.L962L|TENM2_ENST00000518659.1_Silent_p.L1083L|TENM2_ENST00000403607.2_Silent_p.L907L					teneurin transmembrane protein 2	NA											NA						AGTCACTGCTGAAGATCACCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	127	127			NA	NA	5		NA											NA				167626955		1970	4177	6147	SO:0001819	synonymous_variant			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934	57451	57451			29943	protein-coding gene	gene with protein product		610119	odz, odd Oz/ten-m homolog 2 (Drosophila)	ODZ2	NA	10625539	Standard	NM_001122679	NM_001122679	NA	Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000520394.1:c.2553G>A	5.37:g.167626955G>A		NA		37																																																																																				TENM2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371066.2		+	ENST00000520394.1	Silent	SNP	5 : 167626955 - 167626955 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	403	7
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	72	73			NA	NA	12		NA											NA				129822360		2203	4300	6503	SO:0001583	missense			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1118C>T	12.37:g.129822360G>A	ENSP00000408581:p.Ala373Val	NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Missense_Mutation	SNP	12 : 129822360 - 129822360 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	370	12
TRIM67	440730	broad.mit.edu	37	1	231339749	231339749	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:231339749A>G	ENST00000444294.3	+	6	2523	c.1665A>G	c.(1663-1665)ggA>ggG	p.G555G	TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000449018.3_Silent_p.G495G|TRIM67_ENST00000366653.5_Silent_p.G557G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	557	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCCGGGGGACAGTTCCGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	69	64			NA	NA	1		NA											NA				231339749		2035	4177	6212	SO:0001819	synonymous_variant			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283	440730	440730		Tripartite motif containing / Tripartite motif containing, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers	31859	protein-coding gene	gene with protein product		610584	tripartite motif-containing 67		NA		Standard	NM_001004342	NM_001004342	NA	Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000444294.3:c.1665A>G	1.37:g.231339749A>G		NA	Q5TER7|Q5TER8|Q7Z4K7	37																																																																																				TRIM67-003	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000092851.2		+	ENST00000444294.3	Silent	SNP	1 : 231339749 - 231339749 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	282	39
TRPC7	57113	broad.mit.edu	37	5	135692940	135692940	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:135692940G>A	ENST00000513104.1	-	2	418	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	46					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCAGGAAGCGCTCCTCCTCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	101	97			NA	NA	5		NA											NA				135692940		2131	4259	6390	SO:0001583	missense			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018	57113	57113		Voltage-gated ion channels / Transient receptor potential cation channels	20754	protein-coding gene	gene with protein product					NA	11805119, 16382100	Standard	NM_020389	NM_020389	NA	Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.136C>T	5.37:g.135692940G>A	ENSP00000426070:p.Arg46Cys	NA	A1A4Z4	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.814083|4.814083	0.90790|0.90790	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.79247	.|-1.09;-1.25;-1.21	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85327|0.85327	0.5671|0.5671	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999993|0.999993	.|P;D;D;D	.|0.89917	.|0.916;1.0;0.999;0.999	.|B;D;P;P	.|0.65010	.|0.232;0.931;0.899;0.899	D|D	0.86290|0.86290	0.1673|0.1673	5|10	.|0.72032	.|D	.|0.01	-15.4883|-15.4883	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|46;46;46;46	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	V|C	45|46	.|ENSP00000347312:R46C;ENSP00000441628:R46C;ENSP00000426070:R46C	.|ENSP00000265193:R46C	A|R	-|-	2|1	0|0	TRPC7|TRPC7	135720839|135720839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.761000|7.761000	0.85260|0.85260	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCG|CGC	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366975.1		-	ENST00000513104.1	Missense_Mutation	SNP	5 : 135692940 - 135692940 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	630	22
TTN	7273	broad.mit.edu	37	2	179433869	179433869	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179433869G>T	ENST00000589042.1	-	326	77214	c.76990C>A	c.(76990-76992)Cag>Aag	p.Q25664K	TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24023K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24023	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGGAGCTGATCGATTTTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	193	192			NA	NA	2		NA											NA				179433869		1930	4117	6047	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.76990C>A	2.37:g.179433869G>T	ENSP00000467141:p.Gln25664Lys	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	2.557	-0.302746	0.05495	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.93	3.1	0.35709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26048	0.0635	N	0.02266	-0.62	0.33359	D	0.572126	B;B;B;B	0.14012	0.009;0.009;0.009;0.002	B;B;B;B	0.14023	0.005;0.005;0.005;0.01	T	0.16808	-1.0390	9	0.87932	D	0	.	14.5358	0.67960	0.0589:0.212:0.7291:0.0	.	16599;16724;16791;24023	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23096;16599;16791;16724;16597	ENSP00000343764:Q23096K;ENSP00000434586:Q16599K;ENSP00000340554:Q16791K;ENSP00000352154:Q16724K	ENSP00000340554:Q16791K	Q	-	1	0	TTN	179142115	1.000000	0.71417	0.163000	0.22734	0.218000	0.24690	4.194000	0.58393	0.087000	0.17167	-0.810000	0.03169	CAG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179433869 - 179433869 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	887	12
TTN	7273	broad.mit.edu	37	2	179434141	179434141	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179434141C>A	ENST00000589042.1	-	326	76942	c.76718G>T	c.(76717-76719)cGa>cTa	p.R25573L	TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23932	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATCATATCGGTTGACATT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	90			NA	NA	2		NA											NA				179434141		1906	4114	6020	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.76718G>T	2.37:g.179434141C>A	ENSP00000467141:p.Arg25573Leu	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679673	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65913	0.2737	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.67114	-0.5752	9	0.87932	D	0	.	19.8644	0.96799	0.0:1.0:0.0:0.0	.	16508;16633;16700;23932	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	23005;16508;16700;16633;16506	ENSP00000343764:R23005L;ENSP00000434586:R16508L;ENSP00000340554:R16700L;ENSP00000352154:R16633L	ENSP00000340554:R16700L	R	-	2	0	TTN	179142387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179434141 - 179434141 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	347	5
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179579856C>T	ENST00000589042.1	-	90	26281	c.26057G>A	c.(26056-26058)gGc>gAc	p.G8686D	TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8369D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8369	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7442D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTTCTTGCCGCTCCTAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											327	308	314			NA	NA	2		NA											NA				179579856		1930	4126	6056	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.26057G>A	2.37:g.179579856C>T	ENSP00000467141:p.Gly8686Asp	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205284	0.58234	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39963	0.1098	N	0.25825	0.765	0.80722	D	1	B	0.29671	0.254	B	0.35770	0.21	T	0.34925	-0.9809	9	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	8369	Q8WZ42	TITIN_HUMAN	D	7442	ENSP00000343764:G7442D	ENSP00000343764:G7442D	G	-	2	0	TTN	179288101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.672000	0.46850	2.653000	0.90120	0.655000	0.94253	GGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179579856 - 179579856 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	871	6
TTN	7273	broad.mit.edu	37	2	179440550	179440550	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179440550C>T	ENST00000589042.1	-	326	70533	c.70309G>A	c.(70309-70311)Ggc>Agc	p.G23437S	TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21796S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21796	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G14372C(1)|p.G20867C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACTGGGCCTGGCGTGTCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	ovary(2)											94	101	98			NA	NA	2		NA											NA				179440550		2103	4242	6345	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.70309G>A	2.37:g.179440550C>T	ENSP00000467141:p.Gly23437Ser	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138080	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.67	5.67	0.87782	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70298	0.3208	M	0.72479	2.2	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;1.0;1.0;1.0	T	0.72124	-0.4385	9	0.87932	D	0	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	14372;14497;14564;21796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20869;14372;14564;14497;14370	ENSP00000343764:G20869S;ENSP00000434586:G14372S;ENSP00000340554:G14564S;ENSP00000352154:G14497S	ENSP00000340554:G14564S	G	-	1	0	TTN	179148796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.655000	0.94253	GGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179440550 - 179440550 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	665	35
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R380L(1)			NA						CTCGGAGATGCGCTTGAACAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											156	141	146			NA	NA	19		NA											NA				6495371		2203	4298	6501	SO:0001583	missense			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833	10382	10382		Tubulins	20774	protein-coding gene	gene with protein product	class IVa beta-tubulin	602662	tubulin, beta 4, tubulin, beta 4 class IVa, dystonia 4, torsion (autosomal dominant)	TUBB4, DYT4	NA	6865944, 6462917, 23595291	Standard	NM_006087	NM_001289123	NA	Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1139G>A	19.37:g.6495371C>T	ENSP00000264071:p.Arg380His	NA	B3KQP4|Q969E5	37	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189398	0.57909	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.83673	-1.75;-1.75	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.88187	0.6369	M	0.91818	3.245	0.58432	D	0.999991	P	0.48764	0.915	P	0.47118	0.538	D	0.91052	0.4879	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	380	P04350	TBB4A_HUMAN	H	380;380;298	ENSP00000264071:R380H;ENSP00000443590:R380H	ENSP00000264071:R380H	R	-	2	0	TUBB4	6446371	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.681000	0.84073	1.473000	0.48159	0.306000	0.20318	CGC	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457841.1		-	ENST00000264071.2	Missense_Mutation	SNP	19 : 6495371 - 6495371 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	877	6
UGDH	7358	broad.mit.edu	37	4	39512385	39512385	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:39512385T>C	ENST00000316423.6	-	4	703	c.361A>G	c.(361-363)Aat>Gat	p.N121D	UGDH_ENST00000501493.2_Intron|UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	121					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTGTACCCATTTGAGTTTTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	157	161			NA	NA	4		NA											NA				39512385		2203	4300	6503	SO:0001583	missense			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	7358	7358	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	UDP-glucose dehydrogenase		NA	9737970, 10575217	Standard	NM_003359	NM_003359	NA	Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.361A>G	4.37:g.39512385T>C	ENSP00000319501:p.Asn121Asp	NA	O60589	37	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563464	0.45694	.	.	ENSG00000109814	ENST00000316423;ENST00000506179;ENST00000507089;ENST00000515021;ENST00000514106;ENST00000509391	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.95	-0.408	0.12381	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.233858	0.49916	D	0.000133	T	0.53238	0.1784	N	0.17922	0.545	0.37435	D	0.914199	B	0.02656	0.0	B	0.06405	0.002	T	0.41998	-0.9477	10	0.12430	T	0.62	0.1388	11.693	0.51527	0.0828:0.0:0.1465:0.7707	.	121	O60701	UGDH_HUMAN	D	121;121;24;134;121;121	ENSP00000319501:N121D;ENSP00000421757:N121D;ENSP00000426560:N24D;ENSP00000421954:N134D;ENSP00000425834:N121D;ENSP00000422603:N121D	ENSP00000319501:N121D	N	-	1	0	UGDH	39188780	0.994000	0.37717	0.980000	0.43619	0.998000	0.95712	1.356000	0.34079	0.011000	0.14865	0.528000	0.53228	AAT	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216818.3		-	ENST00000316423.6	Missense_Mutation	SNP	4 : 39512385 - 39512385 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	759	237
UNC79	57578	broad.mit.edu	37	14	94173190	94173190	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:94173190C>A	ENST00000553484.1	+	51	8068	c.7914C>A	c.(7912-7914)ttC>ttA	p.F2638L	UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L|UNC79_ENST00000393151.2_Missense_Mutation_p.F2616L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2616						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCACTCAGTTCAAAATGGCCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	14		NA											NA				94173190		2203	4300	6503	SO:0001583	missense			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.7914C>A	14.37:g.94173190C>A	ENSP00000451360:p.Phe2638Leu	NA	Q6ZUT7	37		.	.	.	.	.	.	.	.	.	.	C	22.9	4.350856	0.82132	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26660	1.72;1.78;1.72;1.72	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55743	1.74	0.58432	D	0.999999	P	0.48230	0.907	P	0.54026	0.74	T	0.07539	-1.0767	10	0.87932	D	0	-24.3522	11.5318	0.50614	0.0:0.8938:0.0:0.1062	.	2638	C9JQL1	.	L	2439;2577;2638;2616;2638	ENSP00000256339:F2439L;ENSP00000450868:F2577L;ENSP00000451360:F2638L;ENSP00000376858:F2616L	ENSP00000256339:F2439L	F	+	3	2	KIAA1409	93242943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.910000	0.56371	2.894000	0.99253	0.655000	0.94253	TTC	UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Missense_Mutation	SNP	14 : 94173190 - 94173190 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	298	10
USP17L2	377630	broad.mit.edu	37	8	11995011	11995011	+	Nonsense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11995011A>T	ENST00000333796.3	-	1	1575	c.1259T>A	c.(1258-1260)tTg>tAg	p.L420*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	420					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCGCTCGTCCAACTCGGGTGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	64	62			NA	NA	8		NA											NA				11995011		1603	3597	5200	SO:0001587	stop_gained			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443	377630	377630			34434	protein-coding gene	gene with protein product	deubiquitinating enzyme 3	610186	ubiquitin specific peptidase 17-like 2		NA		Standard	NM_201402	NM_201402	NA	Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1259T>A	8.37:g.11995011A>T	ENSP00000333329:p.Leu420*	NA		37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836544	0.71373	.	.	ENSG00000223443	ENST00000333796	.	.	.	0.36	-0.721	0.11189	.	0.944627	0.08527	U	0.932543	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	.	.	.	.	.	.	.	X	420	.	ENSP00000333329:L420X	L	-	2	0	USP17L2	12032420	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.011000	0.12721	-0.718000	0.04949	-0.731000	0.03576	TTG	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383303.2		-	ENST00000333796.3	Nonsense_Mutation	SNP	8 : 11995011 - 11995011 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	505	25
VAX2	25806	broad.mit.edu	37	2	71148347	71148347	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:71148347C>T	ENST00000234392.2	+	2	399	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	123					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R123S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAGTTCCAGCGCTGCCAGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											43	42	42			NA	NA	2		NA											NA				71148347		2203	4300	6503	SO:0001583	missense			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035	25806	25806		Homeoboxes / ANTP class : NKL subclass	12661	protein-coding gene	gene with protein product		604295			NA	10485894	Standard		NM_012476	NA	Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.367C>T	2.37:g.71148347C>T	ENSP00000234392:p.Arg123Cys	NA	Q53Y33	37	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967070	0.74131	.	.	ENSG00000116035	ENST00000234392	D	0.96365	-3.99	5.43	4.47	0.54385	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.059173	0.64402	D	0.000005	D	0.96632	0.8901	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.96374	0.9276	10	0.72032	D	0.01	-14.5215	12.2143	0.54398	0.2453:0.7547:0.0:0.0	.	123	Q9UIW0	VAX2_HUMAN	C	123	ENSP00000234392:R123C	ENSP00000234392:R123C	R	+	1	0	VAX2	71001855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.230000	0.42999	2.547000	0.85894	0.655000	0.94253	CGC	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251923.1		+	ENST00000234392.2	Missense_Mutation	SNP	2 : 71148347 - 71148347 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	320	29
VBP1	7411	broad.mit.edu	37	X	154464621	154464621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154464621C>T	ENST00000286428.5	+	5	613	c.496C>T	c.(496-498)Cga>Tga	p.R166*	VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*|VBP1_ENST00000459836.1_3'UTR	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	166					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	p.R166G(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGACTTTCTTCGAGATCAATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											104	97	100			NA	NA	X		NA											NA				154464621		2203	4300	6503	SO:0001587	stop_gained			U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959	7411	7411			12662	protein-coding gene	gene with protein product	prefoldin 3	300133			NA	8674032, 9339366	Standard		NM_003372	NA	Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.496C>T	X.37:g.154464621C>T	ENSP00000286428:p.Arg166*	NA	B2R8L5|O55228|Q15765|Q5JT81|Q86X96	37	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	C	37	6.295580	0.97449	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	.	.	.	4.86	4.86	0.63082	.	0.109676	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9083	10.1751	0.42933	0.1991:0.8008:0.0:0.0	.	.	.	.	X	161;166	.	ENSP00000286428:R166X	R	+	1	2	VBP1	154117815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.440000	0.52886	2.324000	0.78689	0.594000	0.82650	CGA	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058806.1		+	ENST00000286428.5	Nonsense_Mutation	SNP	X : 154464621 - 154464621 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	737	9
VRK1	7443	broad.mit.edu	37	14	97319216	97319216	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:97319216A>G	ENST00000216639.3	+	6	572	c.423A>G	c.(421-423)atA>atG	p.I141M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	141	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCAGAAAATATATGAAGCAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	14		NA											NA				97319216		2203	4300	6503	SO:0001583	missense			AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749	7443	7443			12718	protein-coding gene	gene with protein product		602168			NA	9344656	Standard	NM_003384	XM_006720247	NA	Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.423A>G	14.37:g.97319216A>G	ENSP00000216639:p.Ile141Met	NA	Q3SYL2	37	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165260	0.38217	.	.	ENSG00000100749	ENST00000216639	T	0.21191	2.02	5.76	3.01	0.34805	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.418609	0.30446	N	0.009607	T	0.18509	0.0444	M	0.65498	2.005	0.41806	D	0.989943	P	0.44734	0.842	B	0.39876	0.312	T	0.07462	-1.0771	10	0.72032	D	0.01	-21.5458	1.8397	0.03147	0.4436:0.3034:0.106:0.1471	.	141	Q99986	VRK1_HUMAN	M	141	ENSP00000216639:I141M	ENSP00000216639:I141M	I	+	3	3	VRK1	96388969	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	0.138000	0.16016	0.978000	0.38470	0.482000	0.46254	ATA	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413520.1		+	ENST00000216639.3	Missense_Mutation	SNP	14 : 97319216 - 97319216 G PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	422	28
ZHX3	23051	broad.mit.edu	37	20	39832133	39832133	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:39832133G>A	ENST00000309060.3	-	4	1839	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	475	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A475V(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACTGGGCCGCATTGACCAC	0.537		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)											72	58	62			NA	NA	20		NA											NA				39832133		2203	4300	6503	SO:0001583	missense			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306	23051	23051		Zinc fingers, C2H2-type, Homeoboxes / ZF class	15935	protein-coding gene	gene with protein product		609598	triple homeobox 1	TIX1	NA	9455477	Standard	NM_015035	XM_005260343	NA	Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1424C>T	20.37:g.39832133G>A	ENSP00000312222:p.Ala475Val	NA	E1P5W5|O43145	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.997092	0.35226	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.34859	1.34;2.8;2.8;2.59;1.34	5.93	5.93	0.95920	.	0.242897	0.40469	N	0.001094	T	0.32645	0.0836	L	0.40543	1.245	0.18873	N	0.999981	P;B;P	0.41673	0.532;0.348;0.759	B;B;B	0.37480	0.251;0.102;0.176	T	0.38394	-0.9663	10	0.72032	D	0.01	-9.9771	16.3863	0.83505	0.0:0.1314:0.8686:0.0	.	475;475;475	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	V	475;475;475;475;253;475	ENSP00000312222:A475V;ENSP00000362360:A475V;ENSP00000442290:A475V;ENSP00000443783:A475V;ENSP00000415498:A475V	ENSP00000312222:A475V	A	-	2	0	ZHX3	39265547	0.534000	0.26362	0.181000	0.23098	0.707000	0.40811	2.718000	0.47236	2.815000	0.96918	0.561000	0.74099	GCG	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079262.3		-	ENST00000309060.3	Missense_Mutation	SNP	20 : 39832133 - 39832133 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	179	5
ZNF208	7757	broad.mit.edu	37	19	22171676	22171676	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22171676G>T	ENST00000397126.4	-	2	187	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L	NM_007153.3	NP_009084.2			zinc finger protein 208	NA										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTCCAGAGAGAATTCTATGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	131	128			NA	NA	19		NA											NA				22171676		2203	4300	6503	SO:0001583	missense			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321	7757	7757		Zinc fingers, C2H2-type, -	12999	protein-coding gene	gene with protein product	zinc finger protein 95	603977			NA	9724325	Standard	NM_007153	NM_007153	NA	Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.39C>A	19.37:g.22171676G>T	ENSP00000380315:p.Phe13Leu	NA		37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805557	0.31961	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.12879	2.64	1.32	-0.37	0.12530	Krueppel-associated box (4);	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	D;B	0.57571	0.98;0.087	P;B	0.60012	0.867;0.084	T	0.12785	-1.0534	8	0.72032	D	0.01	.	3.7697	0.08636	0.0:0.0:0.5735:0.4265	.	13;13	O43345;F8WEA0	ZN208_HUMAN;.	L	13	ENSP00000380315:F13L	ENSP00000380315:F13L	F	-	3	2	ZNF208	21963516	0.005000	0.15991	0.009000	0.14445	0.601000	0.36947	-0.135000	0.10420	0.636000	0.30508	0.281000	0.19383	TTC	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464302.1		-	ENST00000397126.4	Missense_Mutation	SNP	19 : 22171676 - 22171676 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	805	23
ZNF350	59348	broad.mit.edu	37	19	52469393	52469393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52469393C>A	ENST00000243644.4	-	5	540	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GCATCATGTTCATGACATGGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	19		NA											NA				52469393		2203	4299	6502	SO:0001587	stop_gained			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683	59348	59348		Zinc fingers, C2H2-type, -	16656	protein-coding gene	gene with protein product		605422			NA	11090615, 11161714	Standard	NM_021632	NM_021632	NA	Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.313G>T	19.37:g.52469393C>A	ENSP00000243644:p.Glu105*	NA	Q96G73|Q9HAQ4	37	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054148	0.55218	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.25	-3.54	0.04653	.	0.733993	0.11162	N	0.592957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	4.1621	0.10289	0.0:0.3024:0.19:0.5075	.	.	.	.	X	105	.	ENSP00000243644:E105X	E	-	1	0	ZNF350	57161205	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.533000	0.06157	-0.395000	0.07715	-0.142000	0.14014	GAA	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462278.1		-	ENST00000243644.4	Nonsense_Mutation	SNP	19 : 52469393 - 52469393 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	541	8
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	170	168			NA	NA	3		NA											NA				44763222		2203	4300	6503	SO:0001819	synonymous_variant			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653	91392	91392		Zinc fingers, C2H2-type	23718	protein-coding gene	gene with protein product					NA		Standard	NM_033210	NM_033210	NA	Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A		NA		37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256744.4		+	ENST00000296091.4	Silent	SNP	3 : 44763222 - 44763222 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	713	9
ZNF536	9745	broad.mit.edu	37	19	30936183	30936183	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:30936183G>T	ENST00000355537.3	+	2	1861	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTGGGAGCAGATGGCTCCAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	19		NA											NA				30936183		2203	4300	6503	SO:0001583	missense				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597	9745	9745		Zinc fingers, C2H2-type	29025	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014717	XM_005259445	NA	Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1714G>T	19.37:g.30936183G>T	ENSP00000347730:p.Asp572Tyr	NA	A2RU18	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973891	0.34848	.	.	ENSG00000198597	ENST00000355537	T	0.46819	0.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51450	-0.8704	10	0.08599	T	0.76	-22.8705	19.4573	0.94900	0.0:0.0:1.0:0.0	.	572;572	A7E228;O15090	.;ZN536_HUMAN	Y	572	ENSP00000347730:D572Y	ENSP00000347730:D572Y	D	+	1	0	ZNF536	35628023	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.435000	0.97529	2.582000	0.87167	0.655000	0.94253	GAT	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459667.2		+	ENST00000355537.3	Missense_Mutation	SNP	19 : 30936183 - 30936183 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	388	35
ZNF585B	92285	broad.mit.edu	37	19	37677796	37677796	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:37677796C>T	ENST00000532828.2	-	5	894	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Silent_p.*158*|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACTACATTCATATAGTTTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(93;882 1454 18863 28917 48427)							NA				0													112	113	113			NA	NA	19		NA											NA				37677796		2203	4300	6503	SO:0001583	missense			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680	92285	92285		Zinc fingers, C2H2-type, -	30948	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152279	NM_152279	NA	Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.643G>A	19.37:g.37677796C>T	ENSP00000433773:p.Glu215Lys	NA	Q8IZD3|Q96JW6	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	0.207	-1.040081	0.02013	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19250	2.16;2.16	2.78	0.507	0.16967	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.683944	0.12041	N	0.505100	T	0.06280	0.0162	N	0.04148	-0.265	0.09310	N	0.999998	B;B	0.14438	0.006;0.01	B;B	0.12156	0.007;0.007	T	0.37267	-0.9713	10	0.08599	T	0.76	.	0.6148	0.00767	0.1968:0.3698:0.1925:0.2409	.	160;215	E9PQH3;Q52M93	.;Z585B_HUMAN	K	160;215	ENSP00000436774:E160K;ENSP00000433773:E215K	ENSP00000436774:E160K	E	-	1	0	ZNF585B	42369636	0.000000	0.05858	0.080000	0.20451	0.159000	0.22180	-2.725000	0.00808	0.069000	0.16605	-0.384000	0.06662	GAA	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388272.2		-	ENST00000532828.2	Missense_Mutation	SNP	19 : 37677796 - 37677796 T PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	596	8
ZNF709	163051	broad.mit.edu	37	19	12575884	12575884	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12575884T>C	ENST00000397732.3	-	4	1023	c.852A>G	c.(850-852)caA>caG	p.Q284Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q284Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACATTGCTTACACT	0.373		NA											T	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.889	EXOME	NA	NA	0.0017	SNP	GBM(33;565 669 12371 29134 51667)							NA				0													32	34	34			NA	NA	19		NA											NA				12575884		2160	4279	6439	SO:0001819	synonymous_variant			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852	163051	163051		Zinc fingers, C2H2-type, -	20629	protein-coding gene	gene with protein product					NA		Standard	NM_152601	NM_152601	NA	Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.852A>G	19.37:g.12575884T>C		NA		37	CCDS42504.1																																																																																			ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344088.1		-	ENST00000397732.3	Silent	SNP	19 : 12575884 - 12575884 C PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	471	158
ZXDB	158586	broad.mit.edu	37	X	57620752	57620752	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:57620752G>A	ENST00000374888.1	+	1	2484	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488		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)											163	124	138			NA	NA	X		NA											NA				57620752		2203	4300	6503	SO:0001819	synonymous_variant			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455	158586	158586		Zinc fingers, C2H2-type	13199	protein-coding gene	gene with protein product		300236			NA	8268913	Standard	NM_007157	NM_007157	NA	Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2271G>A	X.37:g.57620752G>A		NA	A8K151|Q9UBB3	37	CCDS35313.1																																																																																			ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056922.1		+	ENST00000374888.1	Silent	SNP	X : 57620752 - 57620752 A PAAD-TCGA-YY-A8LH-Tumor-SM-5KWXN	286	94
