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
ADAMTS12	81792	broad.mit.edu	37	5	33596156	33596156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:33596156C>T	ENST00000504830.1	-	17	2872	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	846	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R846H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCAGTTTGGCGGCGGATACC	0.517		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											120	110	113			NA	NA	5		NA											NA				33596156		2203	4300	6503	SO:0001583	missense			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2537G>A	5.37:g.33596156C>T	ENSP00000422554:p.Arg846His	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010730	0.75046	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.52983	0.64;0.64	5.77	4.9	0.64082	.	0.196715	0.50627	D	0.000112	T	0.49541	0.1563	L	0.55990	1.75	0.80722	D	1	P;P	0.52577	0.463;0.954	B;P	0.48552	0.067;0.581	T	0.43442	-0.9391	10	0.16420	T	0.52	.	15.3406	0.74293	0.0:0.9327:0.0:0.0673	.	761;846	P58397-3;P58397	.;ATS12_HUMAN	H	846;761	ENSP00000422554:R846H;ENSP00000344847:R761H	ENSP00000344847:R761H	R	-	2	0	ADAMTS12	33631913	0.994000	0.37717	0.987000	0.45799	0.998000	0.95712	2.459000	0.45023	1.582000	0.49881	0.585000	0.79938	CGC	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33596156 - 33596156 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	465	66
ADAMTS18	170692	broad.mit.edu	37	16	77317969	77317969	+	Splice_Site	SNP	C	C	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:77317969C>G	ENST00000282849.5	-	23	3969		c.e23-1		RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	NA					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GATGGATCCTCTAAAATAAGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	16		NA											NA				77317969		2198	4300	6498	SO:0001630	splice_region_variant			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873	170692	170692		ADAM metallopeptidases with thrombospondin type 1 motif	17110	protein-coding gene	gene with protein product		607512	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18	ADAMTS21	NA	11867212, 17546048	Standard		NM_199355	NA	Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3551-1G>C	16.37:g.77317969C>G		NA	Q6P4R5|Q6ZWJ9	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894540	0.72639	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS18	75875470	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	7.188000	0.77739	2.814000	0.96858	0.655000	0.94253	.	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269037.1	Intron	-	ENST00000282849.5	Splice_Site	SNP	16 : 77317969 - 77317969 G PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	309	37
ADAMTSL4	54507	broad.mit.edu	37	1	150530955	150530955	+	Missense_Mutation	SNP	G	G	A	rs138636937		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:150530955G>A	ENST00000369038.2	+	13	2590	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V820M|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V797M			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	797	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCAGTGCTCCGTGCGGTGCGG	0.647		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	0,4404		0,0,2202	27	30	29		2389,2389	4.9	0.8	1	dbSNP_134	29	1,8593		0,1,4296	no	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	21,21	0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	797/1075,797/878	150530955	1,12997	2202	4297	6499	SO:0001583	missense			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382	54507	54507			19706	protein-coding gene	gene with protein product		610113	thrombospondin repeat containing 1	TSRC1	NA	12706885	Standard	NM_019032	NM_019032	NA	Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2389G>A	1.37:g.150530955G>A	ENSP00000358034:p.Val797Met	NA	Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516530	0.64634	0.0	1.16E-4	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.91	4.91	0.64330	.	.	.	.	.	T	0.79924	0.4530	M	0.90198	3.095	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.992	D	0.83613	0.0135	9	0.66056	D	0.02	.	15.633	0.76926	0.0:0.0:1.0:0.0	.	758;820;797;797	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	797;797;335;820;797	ENSP00000358037:V797M;ENSP00000271643:V797M;ENSP00000358035:V820M;ENSP00000358034:V797M	ENSP00000271643:V797M	V	+	1	0	ADAMTSL4	148797579	1.000000	0.71417	0.776000	0.31678	0.216000	0.24613	9.034000	0.93747	2.549000	0.85964	0.462000	0.41574	GTG	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084395.4		+	ENST00000369038.2	Missense_Mutation	SNP	1 : 150530955 - 150530955 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	180	44
ALOX5	240	broad.mit.edu	37	10	45878098	45878098	+	Silent	SNP	C	C	T	rs150281723	by1000genomes	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:45878098C>T	ENST00000374391.2	+	2	371	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALOX5_ENST00000542434.1_Silent_p.G106G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	106	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.G106G(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGATCACCGGCGATGTCGAGG	0.592		NA											C	6	0.0027	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0027	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	61	50	54		318	-7.7	0.1	10	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	ALOX5	NM_000698.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		106/675	45878098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	240	240	1.13.11.34	Arachidonate lipoxygenases	435	protein-coding gene	gene with protein product		152390			NA	2565035	Standard		NM_001256153	NA	Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.318C>T	10.37:g.45878098C>T		NA	Q5JQ14	37	CCDS7212.1																																																																																			ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047780.1		+	ENST00000374391.2	Silent	SNP	10 : 45878098 - 45878098 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	124	17
ARHGAP20	57569	broad.mit.edu	37	11	110451075	110451075	+	Silent	SNP	T	T	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:110451075T>C	ENST00000529591.1	-	5	1553	c.1224A>G	c.(1222-1224)tcA>tcG	p.S408S	ARHGAP20_ENST00000528829.1_Silent_p.S829S|ARHGAP20_ENST00000524756.1_Silent_p.S842S|ARHGAP20_ENST00000357139.3_Silent_p.S839S|ARHGAP20_ENST00000533353.1_Silent_p.S839S|ARHGAP20_ENST00000527598.1_Silent_p.S829S|ARHGAP20_ENST00000260283.4_Silent_p.S865S			Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	865	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTTGTTTCTTTGAATAAATTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	107			NA	NA	11		NA											NA				110451075		2201	4298	6499	SO:0001819	synonymous_variant			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727	57569	57569		Rho GTPase activating proteins	18357	protein-coding gene	gene with protein product		609568			NA	14532992	Standard	NM_020809	NM_020809	NA	Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000529591.1:c.1224A>G	11.37:g.110451075T>C		NA	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	37																																																																																				ARHGAP20-006	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390629.2		-	ENST00000529591.1	Silent	SNP	11 : 110451075 - 110451075 C PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	629	113
ARID3C	138715	broad.mit.edu	37	9	34622033	34622033	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:34622033G>A	ENST00000378909.2	-	6	1214	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	374	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		AGACCACCCCGTTGATCTCTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	128	136			NA	NA	9		NA											NA				34622033		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143	138715	138715		-	21209	protein-coding gene	gene with protein product			AT rich interactive domain 3C (BRIGHT- like)		NA		Standard	XM_071061	NM_001017363	NA	Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1122C>T	9.37:g.34622033G>A		NA		37	CCDS35006.1																																																																																			ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348265.1		-	ENST00000378909.2	Silent	SNP	9 : 34622033 - 34622033 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	408	49
ASB18	401036	broad.mit.edu	37	2	237172977	237172977	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:237172977C>T	ENST00000409749.3	-	1	11	c.12G>A	c.(10-12)tcG>tcA	p.S4S	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	4					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GAAGGTAATCCGAGTTGGACA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	102	104			NA	NA	2		NA											NA				237172977		1994	4170	6164	SO:0001819	synonymous_variant			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177	401036	401036		Ankyrin repeat domain containing	19770	protein-coding gene	gene with protein product			ankyrin repeat and SOCS box-containing 18		NA	12076535	Standard	NM_212556	NM_212556	NA	Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.12G>A	2.37:g.237172977C>T		NA	B6ZDL7	37	CCDS46548.1																																																																																			ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329436.1		-	ENST00000409749.3	Silent	SNP	2 : 237172977 - 237172977 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	214	5
BAI1	575	broad.mit.edu	37	8	143618425	143618425	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:143618425C>T	ENST00000517894.1	+	26	4542	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N	BAI1_ENST00000323289.5_Silent_p.N1216N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1216					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTCCAGAACGGCCACGCCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	34	32			NA	NA	8		NA											NA				143618425		2078	4197	6275	SO:0001819	synonymous_variant			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790	575	575		-, GPCR / Class B : Orphans	943	protein-coding gene	gene with protein product		602682			NA	9533023	Standard	NM_001702	NM_001702	NA	Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3648C>T	8.37:g.143618425C>T		NA		37																																																																																				BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379963.3		+	ENST00000517894.1	Silent	SNP	8 : 143618425 - 143618425 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	47	4
BCL11A	53335	broad.mit.edu	37	2	60688929	60688929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:60688929G>A	ENST00000335712.6	-	4	1345	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P373L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P339L|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P339L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	373	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGACTTGACCGGGGGCTGGGA	0.627		NA	T	IGH@	B-CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													45	53	51			NA	NA	2		NA											NA				60688929		2200	4295	6495	SO:0001583	missense			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866	53335	53335		Zinc fingers, C2H2-type	13221	protein-coding gene	gene with protein product		606557	ecotropic viral integration site 9	EVI9	NA	11719382, 18245381	Standard	NM_022893	NM_018014	NA	Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1118C>T	2.37:g.60688929G>A	ENSP00000338774:p.Pro373Leu	NA	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783620	0.31593	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.10288	2.89;3.11;3.12;3.03	5.74	4.84	0.62591	.	0.186906	0.46442	D	0.000293	T	0.16471	0.0396	M	0.61703	1.905	0.80722	D	1	B;D;B;P	0.56746	0.334;0.977;0.226;0.652	B;B;B;B	0.43194	0.063;0.411;0.017;0.044	T	0.02126	-1.1209	10	0.54805	T	0.06	-1.7699	16.5742	0.84633	0.0:0.1305:0.8695:0.0	.	339;339;373;373	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	L	373;409;339;373;339	ENSP00000349300:P373L;ENSP00000438303:P339L;ENSP00000338774:P373L;ENSP00000351307:P339L	ENSP00000338774:P373L	P	-	2	0	BCL11A	60542433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.309000	0.65774	1.392000	0.46585	0.655000	0.94253	CCG	BCL11A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251579.2		-	ENST00000335712.6	Missense_Mutation	SNP	2 : 60688929 - 60688929 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	305	57
BRCA1	672	broad.mit.edu	37	17	41245612	41245612	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:41245612T>C	ENST00000357654.3	-	10	2054	c.1936A>G	c.(1936-1938)Agc>Ggc	p.S646G	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S599G|BRCA1_ENST00000354071.3_Missense_Mutation_p.S646G|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S646G|BRCA1_ENST00000309486.4_Missense_Mutation_p.S350G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S646G|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	646					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTCACTGCTAGAACAACTA	0.408		NA	D, Mis, N, F, S		ovarian	breast, ovarian		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													96	91	93			NA	NA	17		NA											NA				41245612		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048	672	672		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1100	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 1, protein phosphatase 1, regulatory subunit 53	113705			NA	1676470	Standard	NM_007294	NM_007300	NA	Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1936A>G	17.37:g.41245612T>C	ENSP00000350283:p.Ser646Gly	NA	O15129|Q3LRJ0|Q7KYU9	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701528	0.48307	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.99032	-3.64;-3.72;-3.69;-3.57;-3.66;-3.78;-3.99;-5.35	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	D	0.99318	0.9761	M	0.93594	3.435	0.32644	N	0.52031	D;D;P;P;D;P	0.89917	1.0;1.0;0.751;0.849;0.984;0.808	D;D;B;P;P;P	0.71414	0.973;0.973;0.318;0.561;0.799;0.614	D	0.99886	1.1122	10	0.72032	D	0.01	-12.2956	9.02	0.36193	0.0:0.0823:0.0:0.9177	.	646;605;646;646;646;646	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	G	646;646;646;646;350;646;599;646;620	ENSP00000350283:S646G;ENSP00000326002:S646G;ENSP00000246907:S646G;ENSP00000310938:S350G;ENSP00000418960:S646G;ENSP00000418775:S599G;ENSP00000419274:S646G;ENSP00000419988:S620G	ENSP00000310938:S350G	S	-	1	0	BRCA1	38499138	1.000000	0.71417	0.987000	0.45799	0.844000	0.47949	3.457000	0.53007	2.170000	0.68504	0.459000	0.35465	AGC	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348798.2		-	ENST00000357654.3	Missense_Mutation	SNP	17 : 41245612 - 41245612 C PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	643	66
C10orf82	143379	broad.mit.edu	37	10	118425205	118425205	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:118425205G>C	ENST00000369210.3	-	3	242	c.188C>G	c.(187-189)gCc>gGc	p.A63G	C10orf82_ENST00000588184.1_Missense_Mutation_p.A63G	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	63										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CAGTTTCGGGGCAGTGGCCAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	106	109			NA	NA	10		NA											NA				118425205		2203	4300	6503	SO:0001583	missense			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863	143379	143379			28500	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144661	NM_144661	NA	Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.188C>G	10.37:g.118425205G>C	ENSP00000358212:p.Ala63Gly	NA	B3KUM9|D3DRC3	37	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146601	0.57044	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.64260	-0.09	5.16	4.25	0.50352	.	0.715143	0.13142	N	0.410531	T	0.66015	0.2747	M	0.65975	2.015	0.09310	N	1	P;D	0.56521	0.884;0.976	B;P	0.49085	0.42;0.6	T	0.57106	-0.7868	10	0.49607	T	0.09	-4.1516	9.7479	0.40457	0.096:0.0:0.904:0.0	.	63;63	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	G	63	ENSP00000358212:A63G	ENSP00000358212:A63G	A	-	2	0	C10orf82	118415195	0.014000	0.17966	0.010000	0.14722	0.031000	0.12232	1.748000	0.38308	1.161000	0.42604	0.561000	0.74099	GCC	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050527.1		-	ENST00000369210.3	Missense_Mutation	SNP	10 : 118425205 - 118425205 C PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	338	55
C11orf70	85016	broad.mit.edu	37	11	101953816	101953816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:101953816G>A	ENST00000434758.2	+	7	718	c.690G>A	c.(688-690)atG>atA	p.M230I		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	230										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTGCTGGTATGTGCTATCCTT	0.294		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV	NA	NA	4e-04	SNP								NA				0								G	ILE/MET	0,4406		0,0,2203	147	137	141		690	4	1	11		141	8,8590	6.4+/-24.3	0,8,4291	yes	missense	C11orf70	NM_032930.2	10	0,8,6494	AA,AG,GG	NA	0.093,0.0,0.0615	benign	230/268	101953816	8,12996	2203	4299	6502	SO:0001583	missense			AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691	85016	85016			28188	protein-coding gene	gene with protein product					NA		Standard	NM_032930	NM_032930	NA	Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.690G>A	11.37:g.101953816G>A	ENSP00000414390:p.Met230Ile	NA		37	CCDS8313.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.29	1.310068	0.23821	0.0	9.3E-4	ENSG00000137691	ENST00000434758;ENST00000423732	.	.	.	5.85	3.99	0.46301	.	0.448291	0.26062	N	0.026578	T	0.46600	0.1401	L	0.50333	1.59	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.36578	-0.9742	9	0.23891	T	0.37	0.0275	7.5577	0.27833	0.1437:0.0:0.7203:0.1361	.	230	Q9BRQ4	CK070_HUMAN	I	230;192	.	ENSP00000392150:M192I	M	+	3	0	C11orf70	101459026	0.991000	0.36638	0.996000	0.52242	0.588000	0.36517	0.758000	0.26447	1.487000	0.48415	0.585000	0.79938	ATG	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394144.1		+	ENST00000434758.2	Missense_Mutation	SNP	11 : 101953816 - 101953816 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	624	128
CDH23	64072	broad.mit.edu	37	10	73492028	73492028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:73492028C>T	ENST00000224721.6	+	31	4020	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1334	Cadherin 13.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGAGATTGTGCGGGTCCAGGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG,	1,4113		0,1,2056	69	70	70		4000,4000,	3.8	1	10		70	0,8408		0,0,4204	no	missense,missense,intron	CDH23,C10orf105	NM_001171930.1,NM_022124.5,NM_001168390.1	101,101,	0,1,6260	TT,TC,CC	NA	0.0,0.0243,0.0080	probably-damaging,probably-damaging,	1334/1382,1334/3355,	73492028	1,12521	2057	4204	6261	SO:0001583	missense			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4015C>T	10.37:g.73492028C>T	ENSP00000224721:p.Arg1339Trp	NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37		.	.	.	.	.	.	.	.	.	.	C	27.4	4.826680	0.90955	2.43E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.81	3.83	0.44106	Cadherin (3);Cadherin-like (1);	0.069495	0.64402	D	0.000014	T	0.76140	0.3946	M	0.78049	2.395	0.80722	D	1	D;D;D	0.69078	0.995;0.989;0.997	P;P;P	0.61722	0.873;0.776;0.893	T	0.79838	-0.1634	9	0.66056	D	0.02	.	15.0962	0.72235	0.1418:0.8581:0.0:0.0	.	155;1334;1334	E7ERT0;Q6P152;Q9H251	.;.;CAD23_HUMAN	W	1339;1334;1337;155	.	ENSP00000224721:R1339W	R	+	1	2	CDH23	73162034	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.930000	0.48924	2.654000	0.90174	0.561000	0.74099	CGG	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Missense_Mutation	SNP	10 : 73492028 - 73492028 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	119	5
CDHR3	222256	broad.mit.edu	37	7	105673026	105673026	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:105673026G>A	ENST00000317716.9	+	19	2621	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A	CDHR3_ENST00000542731.1_Silent_p.A847A|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000478080.1_Silent_p.A759A	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	847					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTGGCAAAGCGTGGGCTGAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	86	83			NA	NA	7		NA											NA				105673026		2098	4238	6336	SO:0001819	synonymous_variant			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536	222256	222256		Cadherins / Cadherin-related	26308	protein-coding gene	gene with protein product		615610			NA		Standard	NM_152750	NM_152750	NA	Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2541G>A	7.37:g.105673026G>A		NA	Q8TCI7	37	CCDS47684.1																																																																																			CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349025.2		+	ENST00000317716.9	Silent	SNP	7 : 105673026 - 105673026 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	194	10
CHGA	1113	broad.mit.edu	37	14	93396099	93396099	+	Missense_Mutation	SNP	C	C	A	rs150929444	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:93396099C>A	ENST00000334654.4	+	5	478	c.294C>A	c.(292-294)agC>agA	p.S98R	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000216492.5_Missense_Mutation_p.S98R			P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	98					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGAAACACAGCGGTTTTGAAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)							NA				0													73	73	73			NA	NA	14		NA											NA				93396099		2203	4300	6503	SO:0001583	missense				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604	1113	1113			1929	protein-coding gene	gene with protein product	vasostatin, pancreastatin, parastatin	118910			NA	3403545	Standard	NM_001275	NM_001275	NA	Approved		uc001ybc.4	P10645		ENST00000334654.4:c.294C>A	14.37:g.93396099C>A	ENSP00000334023:p.Ser98Arg	NA	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	37		.	.	.	.	.	.	.	.	.	.	C	8.843	0.942786	0.18281	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.07021	4.56;3.23	4.78	1.53	0.23141	.	0.334049	0.33382	N	0.004968	T	0.09468	0.0233	L	0.53249	1.67	0.09310	N	0.999998	B;P	0.36162	0.057;0.54	B;B	0.40677	0.028;0.337	T	0.14392	-1.0474	10	0.41790	T	0.15	-6.3264	5.9182	0.19067	0.1371:0.545:0.0:0.3179	.	98;98	G5E968;P10645	.;CMGA_HUMAN	R	98	ENSP00000216492:S98R;ENSP00000334023:S98R	ENSP00000216492:S98R	S	+	3	2	CHGA	92465852	0.008000	0.16893	0.012000	0.15200	0.675000	0.39556	0.091000	0.15046	0.466000	0.27193	-0.221000	0.12465	AGC	CHGA-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412414.1		+	ENST00000334654.4	Missense_Mutation	SNP	14 : 93396099 - 93396099 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	266	23
CLCNKB	1188	broad.mit.edu	37	1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:16374889C>T	ENST00000375679.4	+	6	661	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb	NA										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		GGGCCGTGTGCGCACCACGAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	1		NA											NA				16374889		2203	4300	6503	SO:0001583	missense			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908	1188	1188		Ion channels / Chloride channels : Voltage-sensitive	2027	protein-coding gene	gene with protein product		602023	chloride channel Kb		NA		Standard	NM_000085	NM_000085	NA	Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.550C>T	1.37:g.16374889C>T	ENSP00000364831:p.Arg184Cys	NA		37	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	18.37	3.608384	0.66558	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.92911	-3.13	4.68	3.69	0.42338	Chloride channel, core (2);	0.349083	0.30649	N	0.009166	D	0.86456	0.5937	L	0.38649	1.16	0.80722	D	1	B	0.20052	0.041	B	0.21151	0.033	D	0.84245	0.0474	10	0.87932	D	0	.	8.4362	0.32789	0.2762:0.5817:0.1421:0.0	.	184	P51801	CLCKB_HUMAN	C	184	ENSP00000364831:R184C	ENSP00000332055:R184C	R	+	1	0	CLCNKB	16247476	1.000000	0.71417	0.627000	0.29227	0.928000	0.56348	2.311000	0.43717	2.139000	0.66308	0.655000	0.94253	CGC	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026331.1		+	ENST00000375679.4	Missense_Mutation	SNP	1 : 16374889 - 16374889 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	141	4
COL5A1	1289	broad.mit.edu	37	9	137709638	137709638	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:137709638C>T	ENST00000371817.3	+	54	4605	c.4191C>T	c.(4189-4191)ccC>ccT	p.P1397P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1397	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCAGGCCCCGCAGGCCCCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	76	79			NA	NA	9		NA											NA				137709638		2200	4300	6500	SO:0001819	synonymous_variant			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4191C>T	9.37:g.137709638C>T		NA	Q15094|Q5SUX4	37	CCDS6982.1																																																																																			COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Silent	SNP	9 : 137709638 - 137709638 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	69	11
COQ3	51805	broad.mit.edu	37	6	99831606	99831606	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:99831606G>A	ENST00000254759.3	-	2	225	c.201C>T	c.(199-201)atC>atT	p.I67I	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	67					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AACAGGAAAAGATCGTCCTGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	6		NA											NA				99831606		2203	4299	6502	SO:0001819	synonymous_variant			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	51805	51805	2.1.1.114		18175	protein-coding gene	gene with protein product	polyprenyldihydroxybenzoate methyltransferase	605196	coenzyme Q3 homolog, methyltransferase (yeast), coenzyme Q3 homolog, methyltransferase (S. cerevisiae)		NA	10777520	Standard	NM_017421	NM_017421	NA	Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.201C>T	6.37:g.99831606G>A		NA	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	37	CCDS5042.1																																																																																			COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041602.1		-	ENST00000254759.3	Silent	SNP	6 : 99831606 - 99831606 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	723	23
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000456150.1_Silent_p.R227R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	97	96			NA	NA	3		NA											NA				47618421		2203	4299	6502	SO:0001819	synonymous_variant			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646	10675	10675			2467	protein-coding gene	gene with protein product		606775			NA	9950058	Standard	NM_006574	NM_006574	NA	Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1095G>A	3.37:g.47618421C>T		NA	Q71M39|Q71M40	37	CCDS56253.1																																																																																			CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257489.1		-	ENST00000383738.2	Silent	SNP	3 : 47618421 - 47618421 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	443	5
DIP2C	22982	broad.mit.edu	37	10	410376	410376	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:410376G>A	ENST00000280886.6	-	20	2502	c.2415C>T	c.(2413-2415)aaC>aaT	p.N805N	DIP2C_ENST00000540204.1_Silent_p.N126N|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	805						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTCGTCGGCGTTGTGCCTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	76			NA	NA	10		NA											NA				410376		2203	4300	6503	SO:0001819	synonymous_variant			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240	22982	22982			29150	protein-coding gene	gene with protein product		611380	KIAA0934	KIAA0934	NA		Standard	NM_014974	NM_014974	NA	Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2415C>T	10.37:g.410376G>A		NA	Q5SS78	37	CCDS7054.1																																																																																			DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046389.1		-	ENST00000280886.6	Silent	SNP	10 : 410376 - 410376 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	289	63
DMD	1756	broad.mit.edu	37	X	32663260	32663260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:32663260C>T	ENST00000357033.4	-	10	1176	c.970G>A	c.(970-972)Gct>Act	p.A324T	DMD_ENST00000288447.4_Missense_Mutation_p.A316T|DMD_ENST00000378677.2_Missense_Mutation_p.A320T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	324					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTCAGGAGCTTCCAAATGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	107	111			NA	NA	X		NA											NA				32663260		2202	4300	6502	SO:0001583	missense			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.970G>A	X.37:g.32663260C>T	ENSP00000354923:p.Ala324Thr	NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099324	0.07010	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72615	0.16;0.16;-0.67	5.67	2.85	0.33270	.	0.197530	0.24231	U	0.040342	T	0.40815	0.1132	N	0.05078	-0.115	0.80722	D	1	B;B;B;B;B	0.10296	0.0;0.0;0.002;0.003;0.001	B;B;B;B;B	0.10450	0.0;0.0;0.005;0.002;0.002	T	0.32188	-0.9916	10	0.02654	T	1	.	7.4854	0.27429	0.0:0.574:0.0:0.426	.	320;316;316;324;320	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	T	316;320;324;324;201;316	ENSP00000367948:A320T;ENSP00000354923:A324T;ENSP00000288447:A316T	ENSP00000288447:A316T	A	-	1	0	DMD	32573181	0.963000	0.33076	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.611000	0.30052	0.600000	0.82982	GCT	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Missense_Mutation	SNP	X : 32663260 - 32663260 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	437	8
DUOX1	53905	broad.mit.edu	37	15	45433521	45433521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:45433521C>T	ENST00000321429.4	+	15	2004	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R533*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R179*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	533	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAAGAAATCCGAAATACCAC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	106	109			NA	NA	15		NA											NA				45433521		2198	4298	6496	SO:0001587	stop_gained			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857	53905	53905		EF-hand domain containing	3062	protein-coding gene	gene with protein product	NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase	606758			NA	10806195	Standard	NM_017434	XM_005254463	NA	Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1597C>T	15.37:g.45433521C>T	ENSP00000317997:p.Arg533*	NA	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	37	6.140306	0.97320	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	4.53	2.15	0.27550	.	0.095326	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0907	10.5604	0.45142	0.4411:0.5589:0.0:0.0	.	.	.	.	X	533	.	ENSP00000317997:R533X	R	+	1	2	DUOX1	43220813	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	2.572000	0.45999	0.336000	0.23639	-0.271000	0.10264	CGA	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416251.1		+	ENST00000321429.4	Nonsense_Mutation	SNP	15 : 45433521 - 45433521 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	272	11
DYNC2H1	79659	broad.mit.edu	37	11	103027117	103027117	+	Splice_Site	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:103027117G>T	ENST00000375735.2	+	26	3889	c.3745G>T	c.(3745-3747)Gat>Tat	p.D1249Y	DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1249	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTAAATAGGATTTAAATAG	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	11		NA											NA				103027117		1811	4071	5882	SO:0001630	splice_region_variant			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3745-1G>T	11.37:g.103027117G>T		NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300875	0.60195	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.62639	0.01;0.01	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.197764	0.33895	N	0.004459	T	0.76140	0.3946	M	0.88181	2.935	0.80722	D	1	B;B	0.33171	0.4;0.348	B;B	0.43123	0.409;0.301	T	0.76817	-0.2819	9	.	.	.	.	18.8855	0.92376	0.0:0.0:1.0:0.0	.	1249;1249	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	1249	ENSP00000364887:D1249Y;ENSP00000381167:D1249Y	.	D	+	1	0	DYNC2H1	102532327	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.376000	0.79658	2.472000	0.83506	0.563000	0.77884	GAT	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1	Missense_Mutation	+	ENST00000375735.2	Splice_Site	SNP	11 : 103027117 - 103027117 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	134	24
DYSF	8291	broad.mit.edu	37	2	71742844	71742844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:71742844C>T	ENST00000258104.3	+	7	1032	c.755C>T	c.(754-756)aCg>aTg	p.T252M	DYSF_ENST00000413539.2_Missense_Mutation_p.T283M|DYSF_ENST00000409762.1_Missense_Mutation_p.T283M|DYSF_ENST00000409366.1_Missense_Mutation_p.T253M|DYSF_ENST00000409744.1_Missense_Mutation_p.T253M|DYSF_ENST00000394120.2_Missense_Mutation_p.T253M|DYSF_ENST00000409582.3_Missense_Mutation_p.T283M|DYSF_ENST00000409651.1_Missense_Mutation_p.T284M|DYSF_ENST00000410020.3_Missense_Mutation_p.T284M|DYSF_ENST00000429174.2_Missense_Mutation_p.T252M|DYSF_ENST00000410041.1_Missense_Mutation_p.T284M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	252	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCAAGCGGACGCGGATCCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	2		NA											NA				71742844		2203	4300	6503	SO:0001583	missense			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	8291	8291			3097	protein-coding gene	gene with protein product	fer-1-like family member 1	603009	limb girdle muscular dystrophy 2B (autosomal recessive)	LGMD2B	NA	8320700	Standard	NM_003494	NM_003494	NA	Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.755C>T	2.37:g.71742844C>T	ENSP00000258104:p.Thr252Met	NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899610	0.72754	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.0	5.0	0.66597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	H	0.95470	3.675	0.53688	D	0.99997	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D	0.99274	1.0894	10	0.87932	D	0	-14.9292	16.1703	0.81808	0.0:1.0:0.0:0.0	.	284;284;253;253;284;253;283;252;283;283;252;252;253;252	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	M	283;283;283;252;252;284;253;253;253;284;284	ENSP00000407046:T283M;ENSP00000387137:T283M;ENSP00000386547:T283M;ENSP00000398305:T252M;ENSP00000258104:T252M;ENSP00000386683:T284M;ENSP00000377678:T253M;ENSP00000386285:T253M;ENSP00000386512:T253M;ENSP00000386881:T284M;ENSP00000386617:T284M	ENSP00000258104:T252M	T	+	2	0	DYSF	71596352	1.000000	0.71417	0.934000	0.37439	0.374000	0.29953	7.351000	0.79395	2.475000	0.83589	0.549000	0.68633	ACG	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Missense_Mutation	SNP	2 : 71742844 - 71742844 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	270	11
EFTUD2	9343	broad.mit.edu	37	17	42928694	42928694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:42928694G>T	ENST00000426333.2	-	28	3164	c.2867C>A	c.(2866-2868)cCt>cAt	p.P956H	EFTUD2_ENST00000592576.1_Missense_Mutation_p.P946H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.P921H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P956H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	956						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CAGCAACATAGGATCATCGAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													197	171	180			NA	NA	17		NA											NA				42928694		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2867C>A	17.37:g.42928694G>T	ENSP00000392094:p.Pro956His	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195069	0.94960	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.71103	-0.53;-0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	M	0.87758	2.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.65773	0.938;0.938	D	0.87972	0.2737	10	0.72032	D	0.01	-13.7718	19.7014	0.96054	0.0:0.0:1.0:0.0	.	946;956	B4DMC0;Q15029	.;U5S1_HUMAN	H	956;946;921	ENSP00000392094:P956H;ENSP00000385873:P921H	ENSP00000262414:P946H	P	-	2	0	EFTUD2	40284220	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.277000	0.95755	2.660000	0.90430	0.563000	0.77884	CCT	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42928694 - 42928694 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	693	92
ENPP7	339221	broad.mit.edu	37	17	77709028	77709028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:77709028G>A	ENST00000328313.5	+	3	807	c.586G>A	c.(586-588)Ggg>Agg	p.G196R		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	196					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACTCTACTTCGGGGAGCCGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	52	56			NA	NA	17		NA											NA				77709028		2203	4300	6503	SO:0001583	missense			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156	339221	339221			23764	protein-coding gene	gene with protein product	alkaline sphingomyelinase				NA	12885774	Standard	NM_178543	NM_178543	NA	Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.586G>A	17.37:g.77709028G>A	ENSP00000332656:p.Gly196Arg	NA	Q6ZTS5|Q8IUS8	37	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179033	0.57692	.	.	ENSG00000182156	ENST00000328313	T	0.71698	-0.59	4.75	3.76	0.43208	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.058821	0.64402	D	0.000002	T	0.72350	0.3449	L	0.60845	1.875	0.80722	D	1	D	0.58620	0.983	P	0.49451	0.611	T	0.72950	-0.4136	10	0.42905	T	0.14	-33.0178	14.1159	0.65154	0.0:0.0:0.8483:0.1517	.	196	Q6UWV6	ENPP7_HUMAN	R	196	ENSP00000332656:G196R	ENSP00000332656:G196R	G	+	1	0	ENPP7	75323623	1.000000	0.71417	0.978000	0.43139	0.346000	0.29079	7.909000	0.87444	0.962000	0.38057	0.591000	0.81541	GGG	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437038.1		+	ENST00000328313.5	Missense_Mutation	SNP	17 : 77709028 - 77709028 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	158	5
FAT1	2195	broad.mit.edu	37	4	187510153	187510153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:187510153C>T	ENST00000441802.2	-	27	13569	c.13360G>A	c.(13360-13362)Gaa>Aaa	p.E4454K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4454					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E4454K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTGAATTCGGGCGGTAAC	0.527		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				1	Substitution - Missense(1)	large_intestine(1)						C	LYS/GLU	0,3870		0,0,1935	237	239	238		13360	5.4	0.2	4		238	1,8265		0,1,4132	no	missense	FAT1	NM_005245.3	56	0,1,6067	TT,TC,CC	NA	0.0121,0.0,0.0082	probably-damaging	4454/4589	187510153	1,12135	1935	4133	6068	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13360G>A	4.37:g.187510153C>T	ENSP00000406229:p.Glu4454Lys	NA		37	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688735|3.688735	0.68271|0.68271	0.0|0.0	1.21E-4|1.21E-4	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772;ENST00000507105	T|.	0.41400|.	1.0|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74107|0.74107	0.3673|0.3673	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.70999|0.70999	-0.4719|-0.4719	10|5	0.42905|.	T|.	0.14|.	.|.	19.3098|19.3098	0.94182|0.94182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4454|.	Q14517|.	FAT1_HUMAN|.	K|Q	4454;4456|233;221	ENSP00000406229:E4454K|.	ENSP00000260147:E4456K|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187747147|187747147	1.000000|1.000000	0.71417|0.71417	0.163000|0.163000	0.22734|0.22734	0.033000|0.033000	0.12548|0.12548	7.111000|7.111000	0.77077|0.77077	2.800000|2.800000	0.96347|0.96347	0.455000|0.455000	0.32223|0.32223	GAA|CGA	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187510153 - 187510153 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	903	25
FAT2	2196	broad.mit.edu	37	5	150923075	150923075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:150923075G>A	ENST00000261800.5	-	9	7625	c.7613C>T	c.(7612-7614)gCc>gTc	p.A2538V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2538	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCAGAGTGGCAATCTGGCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	155	154			NA	NA	5		NA											NA				150923075		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7613C>T	5.37:g.150923075G>A	ENSP00000261800:p.Ala2538Val	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	4.277	0.050637	0.08243	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.271335	0.31660	N	0.007273	T	0.16938	0.0407	N	0.00960	-1.095	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.18209	-1.0344	10	0.15066	T	0.55	.	8.3401	0.32239	0.0774:0.0:0.7667:0.1559	.	2538	Q9NYQ8	FAT2_HUMAN	V	2538	ENSP00000261800:A2538V	ENSP00000261800:A2538V	A	-	2	0	FAT2	150903268	0.981000	0.34729	0.988000	0.46212	0.863000	0.49368	4.966000	0.63715	2.498000	0.84270	0.462000	0.41574	GCC	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150923075 - 150923075 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	845	8
FLNC	2318	broad.mit.edu	37	7	128480725	128480725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:128480725G>A	ENST00000325888.8	+	10	1934	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	FLNC_ENST00000346177.6_Missense_Mutation_p.R558H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	558					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCATCCCTCGCAGGTGAGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	140	135			NA	NA	7		NA											NA				128480725		2108	4216	6324	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1673G>A	7.37:g.128480725G>A	ENSP00000327145:p.Arg558His	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708659	0.68615	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91894	-2.93;-2.93	5.02	5.02	0.67125	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059561	0.64402	D	0.000004	D	0.94345	0.8182	L	0.53249	1.67	0.47183	D	0.999344	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.953	D	0.94549	0.7752	10	0.87932	D	0	.	12.2416	0.54546	0.0893:0.0:0.9107:0.0	.	558;558	Q14315-2;Q14315	.;FLNC_HUMAN	H	558	ENSP00000327145:R558H;ENSP00000344002:R558H	ENSP00000327145:R558H	R	+	2	0	FLNC	128267961	0.981000	0.34729	1.000000	0.80357	0.037000	0.13140	4.138000	0.58017	2.327000	0.79052	0.491000	0.48974	CGC	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128480725 - 128480725 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	449	49
FOXJ3	22887	broad.mit.edu	37	1	42693584	42693584	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:42693584C>T	ENST00000372572.1	-	7	809	c.498G>A	c.(496-498)cgG>cgA	p.R166R	FOXJ3_ENST00000361346.1_Silent_p.R166R|FOXJ3_ENST00000372573.1_Silent_p.R166R|FOXJ3_ENST00000361776.1_Silent_p.R166R|FOXJ3_ENST00000545068.1_Silent_p.R166R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	166					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTTCTTTGGCCGAGTAGGCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	96	100			NA	NA	1		NA											NA				42693584		2203	4300	6503	SO:0001819	synonymous_variant			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815	22887	22887		Forkhead boxes	29178	protein-coding gene	gene with protein product					NA		Standard	NM_014947	NM_014947	NA	Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.498G>A	1.37:g.42693584C>T		NA	A7MBL7|A7MD18|D3DPW2|Q9NSS7	37	CCDS30689.1																																																																																			FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000018310.1		-	ENST00000372572.1	Silent	SNP	1 : 42693584 - 42693584 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	599	6
FSCB	84075	broad.mit.edu	37	14	44974339	44974339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:44974339C>T	ENST00000340446.4	-	1	2143	c.1852G>A	c.(1852-1854)Gcc>Acc	p.A618T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	618	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	14		NA											NA				44974339		2110	4184	6294	SO:0001583	missense			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139	84075	84075			20494	protein-coding gene	gene with protein product		611779	chromosome 14 open reading frame 155	C14orf155	NA	17855365	Standard	NM_032135	NM_032135	NA	Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1852G>A	14.37:g.44974339C>T	ENSP00000344579:p.Ala618Thr	NA	Q5H9U7|Q86YI2|Q9H0J3	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.976988	0.34848	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14144	2.53	4.95	-4.64	0.03349	.	.	.	.	.	T	0.08223	0.0205	L	0.40543	1.245	0.09310	N	1	P	0.41848	0.763	B	0.40009	0.316	T	0.10989	-1.0606	9	0.33940	T	0.23	-0.0988	0.4709	0.00532	0.3443:0.2681:0.1394:0.2481	.	618	Q5H9T9	FSCB_HUMAN	T	618;511	ENSP00000344579:A618T	ENSP00000344579:A618T	A	-	1	0	FSCB	44044089	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-4.571000	0.00214	-1.155000	0.02822	0.650000	0.86243	GCC	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276788.1		-	ENST00000340446.4	Missense_Mutation	SNP	14 : 44974339 - 44974339 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	118	6
GPR133	283383	broad.mit.edu	37	12	131476784	131476784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:131476784G>A	ENST00000535015.1	+	9	939	c.909G>A	c.(907-909)atG>atA	p.M303I	GPR133_ENST00000261654.5_Missense_Mutation_p.M271I|RP11-76C10.5_ENST00000542980.1_lincRNA			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	271					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTCAGATGCCCACAGATG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	194	188			NA	NA	12		NA											NA				131476784		2203	4300	6503	SO:0001583	missense			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000535015.1:c.909G>A	12.37:g.131476784G>A	ENSP00000444425:p.Met303Ile	NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37		.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417574	0.04766	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.38887	1.11;1.11	5.62	2.61	0.31194	.	1.491050	0.03428	N	0.207351	T	0.30727	0.0774	L	0.29908	0.895	0.22081	N	0.999377	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16512	-1.0400	10	0.27785	T	0.31	.	3.881	0.09079	0.1601:0.1364:0.5778:0.1257	.	303;271	B7ZLF7;Q6QNK2	.;GP133_HUMAN	I	271;211;303;30	ENSP00000261654:M271I;ENSP00000444425:M303I	ENSP00000261654:M271I	M	+	3	0	GPR133	130042737	0.174000	0.23070	0.228000	0.23943	0.043000	0.13939	0.405000	0.21015	1.350000	0.45770	0.655000	0.94253	ATG	GPR133-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399359.1		+	ENST00000535015.1	Missense_Mutation	SNP	12 : 131476784 - 131476784 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	944	24
GREB1	9687	broad.mit.edu	37	2	11780565	11780565	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:11780565G>A	ENST00000381486.2	+	33	6135	c.5835G>A	c.(5833-5835)acG>acA	p.T1945T	GREB1_ENST00000234142.5_Silent_p.T1945T|GREB1_ENST00000396123.1_Silent_p.T943T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1945						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTTTTCTGACGGGACGACACA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0								G		1,3893		0,1,1946	78	83	82		5835	-6.8	0.6	2		82	2,8252		0,2,4125	no	coding-synonymous	GREB1	NM_014668.3		0,3,6071	AA,AG,GG	NA	0.0242,0.0257,0.0247		1945/1950	11780565	3,12145	1947	4127	6074	SO:0001819	synonymous_variant				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5835G>A	2.37:g.11780565G>A		NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1																																																																																			GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1		+	ENST00000381486.2	Silent	SNP	2 : 11780565 - 11780565 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	402	35
GRID2	2895	broad.mit.edu	37	4	94376915	94376915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94376915C>T	ENST00000282020.4	+	11	1906	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.R455*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	550					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGTACTACTTCGAAGGGCTGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	171	180			NA	NA	4		NA											NA				94376915		2203	4300	6503	SO:0001587	stop_gained			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208	2895	2895		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4576	protein-coding gene	gene with protein product		602368			NA	9465309	Standard		NM_001510	NA	Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1648C>T	4.37:g.94376915C>T	ENSP00000282020:p.Arg550*	NA	Q4KKU9|Q4KKV0|Q59FZ1	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	41	9.088102	0.99061	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1877	0.73016	0.1408:0.8592:0.0:0.0	.	.	.	.	X	550;455	.	ENSP00000282020:R550X	R	+	1	2	GRID2	94595938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.461000	0.53035	2.836000	0.97738	0.655000	0.94253	CGA	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253588.2		+	ENST00000282020.4	Nonsense_Mutation	SNP	4 : 94376915 - 94376915 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	375	13
GRID2	2895	broad.mit.edu	37	4	94547520	94547520	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94547520T>G	ENST00000282020.4	+	14	2552	c.2294T>G	c.(2293-2295)gTt>gGt	p.V765G	GRID2_ENST00000510992.1_Missense_Mutation_p.V670G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	765					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAAATACTGTTGCTGATCGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	177	185			NA	NA	4		NA											NA				94547520		2203	4300	6503	SO:0001583	missense			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208	2895	2895		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4576	protein-coding gene	gene with protein product		602368			NA	9465309	Standard		NM_001510	NA	Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2294T>G	4.37:g.94547520T>G	ENSP00000282020:p.Val765Gly	NA	Q4KKU9|Q4KKV0|Q59FZ1	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906796	0.52333	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11604	2.76;2.76	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.109275	0.64402	D	0.000006	T	0.11281	0.0275	L	0.34521	1.04	0.80722	D	1	B;B	0.20459	0.045;0.045	B;B	0.21917	0.037;0.037	T	0.05305	-1.0893	10	0.87932	D	0	.	15.2141	0.73250	0.0:0.0:0.0:1.0	.	670;765	E9PH24;O43424	.;GRID2_HUMAN	G	765;670	ENSP00000282020:V765G;ENSP00000421257:V670G	ENSP00000282020:V765G	V	+	2	0	GRID2	94766543	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.456000	0.60081	2.055000	0.61198	0.397000	0.26171	GTT	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253588.2		+	ENST00000282020.4	Missense_Mutation	SNP	4 : 94547520 - 94547520 G PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	512	20
HIST1H2BF	8343	broad.mit.edu	37	6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:26199947G>A	ENST00000359985.1	+	1	200	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	205	211			NA	NA	6		NA											NA				26199947		2203	4300	6503	SO:0001583	missense			Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224	8343	8343		Histones / Replication-dependent	4752	protein-coding gene	gene with protein product		602804	H2B histone family, member G, histone 1, H2bf	H2BFG	NA	9119399, 12408966	Standard	NM_003522	NM_003522	NA	Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.161G>A	6.37:g.26199947G>A	ENSP00000353074:p.Gly54Asp	NA	P02278|Q3B872|Q4VB69|Q93078|Q93080	37	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222980	0.58668	.	.	ENSG00000197846	ENST00000359985	T	0.69435	-0.4	3.89	3.89	0.44902	.	0.000000	0.42172	D	0.000755	T	0.73442	0.3587	.	.	.	0.41511	D	0.988346	.	.	.	.	.	.	T	0.78807	-0.2059	7	0.87932	D	0	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	D	54	ENSP00000353074:G54D	ENSP00000353074:G54D	G	+	2	0	HIST1H2BF	26307926	1.000000	0.71417	0.996000	0.52242	0.014000	0.08584	9.518000	0.98022	2.102000	0.63906	0.650000	0.86243	GGC	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040108.1		+	ENST00000359985.1	Missense_Mutation	SNP	6 : 26199947 - 26199947 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	855	7
IDH2	3418	broad.mit.edu	37	15	90630448	90630448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:90630448C>A	ENST00000559482.1	-	5	622	c.536G>T	c.(535-537)cGg>cTg	p.R179L	IDH2_ENST00000540499.2_Missense_Mutation_p.R236L|IDH2_ENST00000330062.3_Missense_Mutation_p.R288L|IDH2_ENST00000539790.1_Missense_Mutation_p.R158L			P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	288		Critical for catalysis (By similarity).			2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATCAATGAGCCGGTGCTCATA	0.527		NA	M		GBM						OREG0023466	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				Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0													131	124	126			NA	NA	15		NA											NA				90630448		2200	4298	6498	SO:0001583	missense				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	3418	3418	1.1.1.42		5383	protein-coding gene	gene with protein product		147650			NA		Standard		NM_001289910	NA	Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000559482.1:c.536G>T	15.37:g.90630448C>A	ENSP00000453016:p.Arg179Leu	1276	B2R6L6|Q96GT3	37		.	.	.	.	.	.	.	.	.	.	C	24.0	4.476860	0.84640	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.76316	-1.01;-1.01;-1.01	5.73	5.73	0.89815	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.92661	0.6141	10	0.87932	D	0	.	17.3795	0.87401	0.0:1.0:0.0:0.0	.	288;288	Q53GL5;P48735	.;IDHP_HUMAN	L	288;158;236	ENSP00000331897:R288L;ENSP00000438457:R158L;ENSP00000446147:R236L	ENSP00000331897:R288L	R	-	2	0	IDH2	88431452	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.786000	0.85741	2.709000	0.92574	0.491000	0.48974	CGG	IDH2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417508.1		-	ENST00000559482.1	Missense_Mutation	SNP	15 : 90630448 - 90630448 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	233	6
IL1RL2	8808	broad.mit.edu	37	2	102851439	102851439	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:102851439C>T	ENST00000264257.2	+	11	1506	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.G342G|IL1RL2_ENST00000539491.1_Silent_p.G460G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	460	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGGCTTTGGCCTGTTGAAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	106	107			NA	NA	2		NA											NA				102851439		2203	4300	6503	SO:0001819	synonymous_variant			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598	8808	8808		Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5999	protein-coding gene	gene with protein product		604512			NA	8898719, 10191101, 11466363	Standard	NM_003854	NM_003854	NA	Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1380C>T	2.37:g.102851439C>T		NA	Q13525|Q45H74|Q53TU8|Q587I8	37	CCDS2056.1																																																																																			IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253290.1		+	ENST00000264257.2	Silent	SNP	2 : 102851439 - 102851439 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	250	5
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	440	7
KIAA1217	56243	broad.mit.edu	37	10	24831899	24831899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:24831899G>T	ENST00000307544.6	+	13	2993				KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.E917*|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.E1234*|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	NA					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAACATCAGAATATAAAAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	41	41			NA	NA	10		NA											NA				24831899		2203	4300	6503	SO:0001627	intron_variant			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.2661+200G>T	10.37:g.24831899G>T		NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37		.	.	.	.	.	.	.	.	.	.	G	42	9.260198	0.99117	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.42	4.5	0.54988	.	0.360938	0.28062	N	0.016754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.1525	0.72713	0.0:0.1417:0.8583:0.0	.	.	.	.	X	917;1234;917;917	.	ENSP00000365634:E917X	E	+	1	0	KIAA1217	24871905	0.993000	0.37304	0.790000	0.31976	0.868000	0.49771	2.681000	0.46926	1.264000	0.44198	0.561000	0.74099	GAA	KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Intron	SNP	10 : 24831899 - 24831899 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	161	41
KIRREL3	84623	broad.mit.edu	37	11	126432761	126432761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:126432761C>T	ENST00000525144.2	-	2	351	c.102G>A	c.(100-102)atG>atA	p.M34I	KIRREL3_ENST00000529097.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000525704.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3-AS1_ENST00000548204.1_RNA	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	34					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGTCCTTGGCCATGTAGCCCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	116	118			NA	NA	11		NA											NA				126432761		1947	4141	6088	SO:0001583	missense			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571	84623	84623		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	23204	protein-coding gene	gene with protein product		607761			NA	12424224, 11347906	Standard	NM_032531	NM_032531	NA	Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.102G>A	11.37:g.126432761C>T	ENSP00000435466:p.Met34Ile	NA	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017523	0.54576	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.70516	-0.49;-0.26;-0.35	5.62	5.62	0.85841	.	0.078542	0.53938	D	0.000046	T	0.54255	0.1847	N	0.08118	0	0.80722	D	1	B;B;B	0.26547	0.048;0.152;0.077	B;B;B	0.26614	0.025;0.071;0.019	T	0.52719	-0.8538	10	0.37606	T	0.19	.	17.8583	0.88773	0.0:1.0:0.0:0.0	.	34;34;34	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	I	34	ENSP00000435466:M34I;ENSP00000434081:M34I;ENSP00000435094:M34I	ENSP00000435466:M34I	M	-	3	0	KIRREL3	125937971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.645000	0.89757	0.650000	0.86243	ATG	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386479.2		-	ENST00000525144.2	Missense_Mutation	SNP	11 : 126432761 - 126432761 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	273	38
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	346	66
KRT24	192666	broad.mit.edu	37	17	38857493	38857493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:38857493G>A	ENST00000264651.2	-	3	810	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	252	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGGACTTTCCGCAGGCCATTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(61;380 1051 14702 23642 31441)							NA				0													99	86	90			NA	NA	17		NA											NA				38857493		2203	4300	6503	SO:0001583	missense				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916	192666	192666		-, Intermediate filaments type I, keratins (acidic)	18527	protein-coding gene	gene with protein product		607742			NA	16831889	Standard	NM_019016	NM_019016	NA	Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.754C>T	17.37:g.38857493G>A	ENSP00000264651:p.Arg252Trp	NA	Q9NXG7	37	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282977	0.40394	.	.	ENSG00000167916	ENST00000264651	D	0.92545	-3.06	5.82	1.51	0.23008	Filament (1);	.	.	.	.	D	0.97145	0.9067	H	0.96175	3.78	0.38355	D	0.944446	D	0.89917	1.0	D	0.78314	0.991	D	0.98696	1.0698	9	0.87932	D	0	.	15.8909	0.79296	0.0:0.0:0.5363:0.4637	.	252	Q2M2I5	K1C24_HUMAN	W	252	ENSP00000264651:R252W	ENSP00000264651:R252W	R	-	1	2	KRT24	36111019	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.336000	0.19823	0.078000	0.16900	-1.227000	0.01581	CGG	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257217.1		-	ENST00000264651.2	Missense_Mutation	SNP	17 : 38857493 - 38857493 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	266	11
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	97	107			NA	NA	X		NA											NA				153134383		2203	4300	6503	SO:0001583	missense			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910	3897	3897		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	6470	protein-coding gene	gene with protein product		308840	antigen identified by monoclonal antibody R1	HSAS1, SPG1, HSAS, MASA, MIC5, S10	NA		Standard	NM_024003	NM_001278116	NA	Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val	NA	A0AV65|B2RMU7|Q8TA87	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061094.2		-	ENST00000370060.1	Missense_Mutation	SNP	X : 153134383 - 153134383 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	269	5
LIMK1	3984	broad.mit.edu	37	7	73511508	73511508	+	Silent	SNP	C	C	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:73511508C>A	ENST00000418310.1	+	4	582	c.480C>A	c.(478-480)tcC>tcA	p.S160S	LIMK1_ENST00000336180.2_Silent_p.S130S|LIMK1_ENST00000538333.3_Silent_p.S96S|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	130					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGGAGCACTCCAAGCTGTACT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	53	63			NA	NA	7		NA											NA				73511508		2203	4300	6503	SO:0001819	synonymous_variant			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683	3984	3984			6613	protein-coding gene	gene with protein product		601329			NA	8673124, 8812460	Standard	NM_002314	NM_002314	NA	Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000418310.1:c.480C>A	7.37:g.73511508C>A		NA	D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	37																																																																																				LIMK1-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348344.1		+	ENST00000418310.1	Silent	SNP	7 : 73511508 - 73511508 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	102	6
LPO	4025	broad.mit.edu	37	17	56345237	56345237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:56345237C>T	ENST00000262290.4	+	13	2337	c.2021C>T	c.(2020-2022)aCc>aTc	p.T674I	LPO_ENST00000421678.2_Missense_Mutation_p.T591I|LPO_ENST00000582328.1_Missense_Mutation_p.T591I|LPO_ENST00000543544.1_Missense_Mutation_p.T615I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	674					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTGACAACACCCGCATCACC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	99	104			NA	NA	17		NA											NA				56345237		2203	4300	6503	SO:0001583	missense			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	NA	4025	1.11.1.7		6678	protein-coding gene	gene with protein product		150205			NA	2222811, 8964511	Standard		NM_006151	NA	Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.2021C>T	17.37:g.56345237C>T	ENSP00000262290:p.Thr674Ile	NA	Q13408|Q3KNQ2	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992253	0.93167	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71817	-0.6;-0.6;-0.6	5.5	5.5	0.81552	.	0.046101	0.85682	D	0.000000	D	0.86994	0.6067	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89017	0.3432	10	0.72032	D	0.01	-33.3127	17.9786	0.89133	0.0:1.0:0.0:0.0	.	591;674	E7EMJ3;P22079	.;PERL_HUMAN	I	674;591;615;419	ENSP00000262290:T674I;ENSP00000400245:T591I;ENSP00000445344:T615I	ENSP00000262290:T674I	T	+	2	0	LPO	53700236	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.267000	0.78462	2.591000	0.87537	0.655000	0.94253	ACC	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443961.1		+	ENST00000262290.4	Missense_Mutation	SNP	17 : 56345237 - 56345237 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	391	74
MBD3L1	85509	broad.mit.edu	37	19	8953738	8953738	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:8953738G>A	ENST00000595891.1	+	3	615	c.384G>A	c.(382-384)gcG>gcA	p.A128A	MBD3L1_ENST00000305625.2_Silent_p.A128A			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CTTCAGATGCGGTGGAGATAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	46	50			NA	NA	19		NA											NA				8953738		2203	4300	6503	SO:0001819	synonymous_variant			AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948	85509	85509			15774	protein-coding gene	gene with protein product		607963	methyl-CpG binding domain protein 3-like	MBD3L	NA	12504854	Standard	NM_145208	NM_145208	NA	Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.384G>A	19.37:g.8953738G>A		NA	B5BUM6|Q2M291	37	CCDS12209.1																																																																																			MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459973.1		+	ENST00000595891.1	Silent	SNP	19 : 8953738 - 8953738 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	126	22
MBD4	8930	broad.mit.edu	37	3	129151965	129151965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:129151965C>T	ENST00000429544.2	-	6	1714	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	MBD4_ENST00000507208.1_Missense_Mutation_p.A513T|MBD4_ENST00000393278.2_Missense_Mutation_p.A195T|MBD4_ENST00000249910.1_Missense_Mutation_p.A513T|MBD4_ENST00000503197.1_Missense_Mutation_p.A513T	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	513					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGGTTTTTGCCCGAAGATCG	0.403		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	141	140			NA	NA	3		NA											NA				129151965		2203	4300	6503	SO:0001583	missense			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071	8930	8930			6919	protein-coding gene	gene with protein product		603574			NA	9774669, 10097147	Standard	NM_003925	NM_003925	NA	Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000429544.2:c.1519G>A	3.37:g.129151965C>T	ENSP00000394080:p.Ala507Thr	NA	D3DNC3|D3DNC4|Q7Z4T3|Q96F09	37		.	.	.	.	.	.	.	.	.	.	C	33	5.273592	0.95459	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.14	6.14	0.99180	HhH-GPD domain (1);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	T	0.81293	0.4792	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.994;0.995;1.0;0.998	D;D;D;D;D	0.91635	0.968;0.945;0.945;0.999;0.98	T	0.80353	-0.1418	10	0.56958	D	0.05	-21.0242	20.4701	0.99162	0.0:1.0:0.0:0.0	.	513;195;507;513;513	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	T	507;513;513;195;513	ENSP00000394080:A507T;ENSP00000249910:A513T;ENSP00000424873:A513T;ENSP00000376959:A195T;ENSP00000422327:A513T	ENSP00000249910:A513T	A	-	1	0	MBD4	130634655	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.291000	0.78721	2.937000	0.99478	0.650000	0.86243	GCA	MBD4-003	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000355692.1		-	ENST00000429544.2	Missense_Mutation	SNP	3 : 129151965 - 129151965 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	560	7
MRPS33	51650	broad.mit.edu	37	7	140710243	140710243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:140710243G>A	ENST00000393008.3	-	2	346	c.191C>T	c.(190-192)aCg>aTg	p.T64M	MRPS33_ENST00000467334.1_Missense_Mutation_p.T54M|MRPS33_ENST00000496958.1_Missense_Mutation_p.T64M|MRPS33_ENST00000469351.1_Missense_Mutation_p.T64M|MRPS33_ENST00000324787.5_Missense_Mutation_p.T64M	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	64					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					AAATCGGAGCGTCTGCATGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR	0,4406		0,0,2203	158	149	152		191,191	-4.8	0	7		152	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MRPS33	NM_016071.3,NM_053035.2	81,81	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging	64/107,64/107	140710243	2,13004	2203	4300	6503	SO:0001583	missense			AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263	51650	51650		Mitochondrial ribosomal proteins / small subunits	16634	protein-coding gene	gene with protein product		611993			NA	11279123, 10810093	Standard	NM_053035	NM_016071	NA	Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.191C>T	7.37:g.140710243G>A	ENSP00000376732:p.Thr64Met	NA		37	CCDS5864.1	.	.	.	.	.	.	.	.	.	.	G	9.817	1.184686	0.21870	0.0	2.33E-4	ENSG00000090263	ENST00000544013;ENST00000393008;ENST00000324787;ENST00000496958;ENST00000469351;ENST00000467334	.	.	.	5.1	-4.84	0.03151	.	0.517024	0.23549	N	0.046999	T	0.20780	0.0500	N	0.16368	0.405	0.09310	N	0.999996	D	0.69078	0.997	P	0.56514	0.8	T	0.25363	-1.0134	9	0.28530	T	0.3	-2.3832	5.3	0.15773	0.4111:0.0:0.2195:0.3694	.	64	Q9Y291	RT33_HUMAN	M	64;64;64;64;64;54	.	ENSP00000320567:T64M	T	-	2	0	MRPS33	140356712	0.093000	0.21703	0.010000	0.14722	0.057000	0.15508	0.429000	0.21412	-0.574000	0.05990	0.467000	0.42956	ACG	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348878.1		-	ENST00000393008.3	Missense_Mutation	SNP	7 : 140710243 - 140710243 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	450	76
MUC16	94025	broad.mit.edu	37	19	9074660	9074660	+	Silent	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:9074660G>T	ENST00000397910.4	-	3	12989	c.12786C>A	c.(12784-12786)atC>atA	p.I4262I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4264	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						TATGGCCTGGGATAGGAGAAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	125	125			NA	NA	19		NA											NA				9074660		2010	4166	6176	SO:0001819	synonymous_variant			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.12786C>A	19.37:g.9074660G>T		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1																																																																																			MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Silent	SNP	19 : 9074660 - 9074660 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	255	7
NCR2	9436	broad.mit.edu	37	6	41318497	41318497	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:41318497G>A	ENST00000373089.5	+	5	814	c.726G>A	c.(724-726)acG>acA	p.T242T	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	242					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					aacaggtcacggaccttccct	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	89	93			NA	NA	6		NA											NA				41318497		2203	4300	6503	SO:0001819	synonymous_variant			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264	9436	9436		CD molecules, Immunoglobulin superfamily / V-set domain containing	6732	protein-coding gene	gene with protein product		604531	lymphocyte antigen 95 (activating NK-receptor; NK-p44)	LY95	NA	10049942	Standard		NM_004828	NA	Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.726G>A	6.37:g.41318497G>A		NA	Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	37	CCDS4855.1																																																																																			NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040511.3		+	ENST00000373089.5	Silent	SNP	6 : 41318497 - 41318497 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	205	7
NFKBIZ	64332	broad.mit.edu	37	3	101575980	101575980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:101575980delC	ENST00000326172.5	+	10	2003	c.1888delC	c.(1888-1890)cgcfs	p.R630fs	NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.R530fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Del_p.R508fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	630	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGAACTCATTCGCCTCTTTTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	134	128			NA	NA	3		NA											NA				101575980		2203	4300	6503	SO:0001589	frameshift_variant			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802	64332	64332		Ankyrin repeat domain containing	29805	protein-coding gene	gene with protein product	IL-1 inducible nuclear ankyrin-repeat protein	608004			NA	12565889, 16513645	Standard	NM_031419	NM_031419	NA	Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1888delC	3.37:g.101575980delC	ENSP00000325663:p.Arg630fs	NA	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	37	CCDS2946.1																																																																																			NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353793.1		+	ENST00000326172.5	Frame_Shift_Del	DEL	3 : 101575980 - 101575980 - PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	381	54
OPRD1	4985	broad.mit.edu	37	1	29185499	29185499	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:29185499C>T	ENST00000234961.2	+	2	503	c.261C>T	c.(259-261)taC>taT	p.Y87Y		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	87					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCAACATCTACATCTTCAACC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	114			NA	NA	1		NA											NA				29185499		2203	4300	6503	SO:0001819	synonymous_variant			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329	4985	4985		GPCR / Class A : Opioid receptors	8153	protein-coding gene	gene with protein product		165195			NA	8415697	Standard	NM_000911	NM_000911	NA	Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.261C>T	1.37:g.29185499C>T		NA	B5B0B8	37	CCDS329.1																																																																																			OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010330.1		+	ENST00000234961.2	Silent	SNP	1 : 29185499 - 29185499 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	402	8
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	239	243			NA	NA	9		NA											NA				125316158		2203	4300	6503	SO:0001583	missense				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501	138882	138882		GPCR / Class A : Olfactory receptors	15111	protein-coding gene	gene with protein product					NA		Standard		NM_001004457	NA	Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His	NA	A3KFM2|B2RNY4|Q6IF17|Q96RA3	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053937.2		+	ENST00000373688.2	Missense_Mutation	SNP	9 : 125316158 - 125316158 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	513	5
PHLDB2	90102	broad.mit.edu	37	3	111603672	111603672	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:111603672G>A	ENST00000431670.2	+	2	1159	c.748G>A	c.(748-750)Gga>Aga	p.G250R	PHLDB2_ENST00000393925.3_Missense_Mutation_p.G250R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G277R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G250R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	250						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGTCACATGGGAGCCTACAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	68	67			NA	NA	3		NA											NA				111603672		2203	4300	6503	SO:0001583	missense				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824	90102	90102		Pleckstrin homology (PH) domain containing	29573	protein-coding gene	gene with protein product		610298			NA	12376540	Standard	NM_145753	NM_145753	NA	Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.748G>A	3.37:g.111603672G>A	ENSP00000405405:p.Gly250Arg	NA	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815029	0.70912	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.57273	0.44;0.62;0.46;0.41;0.62;0.46	5.4	5.4	0.78164	.	0.241259	0.41823	D	0.000803	T	0.67988	0.2952	L	0.51422	1.61	0.48185	D	0.999601	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	0.942;1.0;1.0;0.962;0.995	T	0.69320	-0.5176	10	0.72032	D	0.01	.	16.4564	0.84019	0.0:0.0:1.0:0.0	.	250;250;250;250;277	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	R	277;277;250;250;250;250;250;250;250	ENSP00000377500:G277R;ENSP00000405405:G250R;ENSP00000405292:G250R;ENSP00000418296:G250R;ENSP00000377502:G250R;ENSP00000418319:G250R	ENSP00000352764:G277R	G	+	1	0	PHLDB2	113086362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.291000	0.65667	2.703000	0.92315	0.655000	0.94253	GGA	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354337.1		+	ENST00000431670.2	Missense_Mutation	SNP	3 : 111603672 - 111603672 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	480	172
PKD2L1	9033	broad.mit.edu	37	10	102057186	102057186	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:102057186G>A	ENST00000318222.3	-	5	1291	c.909C>T	c.(907-909)atC>atT	p.I303I	PKD2L1_ENST00000353274.3_Silent_p.I303I|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	303					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGAGAAGTCGATGAACACCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	85			NA	NA	10		NA											NA				102057186		2203	4300	6503	SO:0001819	synonymous_variant			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593	9033	9033		Voltage-gated ion channels / Transient receptor potential cation channels	9011	protein-coding gene	gene with protein product	transient receptor potential cation channel, subfamily P, member 3	604532		PKD2L, PKDL	NA	9878261, 9748274	Standard	NM_016112	NM_016112	NA	Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.909C>T	10.37:g.102057186G>A		NA	O75972|Q5W039|Q9UP35|Q9UPA2	37	CCDS7492.1																																																																																			PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049863.2		-	ENST00000318222.3	Silent	SNP	10 : 102057186 - 102057186 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	330	40
PLCB2	5330	broad.mit.edu	37	15	40581489	40581489	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:40581489C>G	ENST00000260402.3	-	31	3587	c.3338G>C	c.(3337-3339)cGg>cCg	p.R1113P	PLCB2_ENST00000456256.2_Missense_Mutation_p.R1098P|PLCB2_ENST00000557821.1_Missense_Mutation_p.R1109P	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1113					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCCATCTCCCGTATCTGTTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	152	149			NA	NA	15		NA											NA				40581489		1956	4138	6094	SO:0001583	missense				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	5330	5330	3.1.4.11		9055	protein-coding gene	gene with protein product		604114			NA	1644792, 9925923	Standard		XM_005254448	NA	Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3338G>C	15.37:g.40581489C>G	ENSP00000260402:p.Arg1113Pro	NA	A8K6J2	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852673	0.51270	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.45668	0.89;0.89	5.05	-0.161	0.13371	PLC-beta, C-terminal (1);	0.561271	0.17537	N	0.170673	T	0.33177	0.0854	N	0.22421	0.69	0.80722	D	1	P;B;P	0.37122	0.523;0.451;0.583	P;B;P	0.46299	0.509;0.333;0.511	T	0.06180	-1.0841	10	0.33141	T	0.24	.	8.7765	0.34765	0.0:0.4418:0.0:0.5582	.	1098;1109;1113	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	P	1113;1098	ENSP00000260402:R1113P;ENSP00000411991:R1098P	ENSP00000260402:R1113P	R	-	2	0	PLCB2	38368781	0.889000	0.30405	0.991000	0.47740	0.983000	0.72400	-0.086000	0.11233	-0.207000	0.10187	0.561000	0.74099	CGG	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418430.1		-	ENST00000260402.3	Missense_Mutation	SNP	15 : 40581489 - 40581489 G PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	386	11
PLXNA2	5362	broad.mit.edu	37	1	208276511	208276511	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:208276511A>G	ENST00000367033.3	-	5	2345	c.1588T>C	c.(1588-1590)Tgg>Cgg	p.W530R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	530					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGCACACCAGCCACAGTGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	60	63			NA	NA	1		NA											NA				208276511		2203	4300	6503	SO:0001583	missense			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1588T>C	1.37:g.208276511A>G	ENSP00000356000:p.Trp530Arg	NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220286	0.79464	.	.	ENSG00000076356	ENST00000367033	D	0.92249	-3.0	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98485	1.0607	10	0.87932	D	0	.	14.5136	0.67804	1.0:0.0:0.0:0.0	.	530	O75051	PLXA2_HUMAN	R	530	ENSP00000356000:W530R	ENSP00000356000:W530R	W	-	1	0	PLXNA2	206343134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.798000	0.91888	2.025000	0.59659	0.533000	0.62120	TGG	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6		-	ENST00000367033.3	Missense_Mutation	SNP	1 : 208276511 - 208276511 G PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	120	23
PPARGC1A	10891	broad.mit.edu	37	4	23830129	23830129	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:23830129G>A	ENST00000264867.2	-	5	770	c.651C>T	c.(649-651)aaC>aaT	p.N217N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	217					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GAGGGTCATCGTTTGTGGTCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(29;694 744 13796 34866 44181)							NA				0													381	346	357			NA	NA	4		NA											NA				23830129		2203	4300	6503	SO:0001819	synonymous_variant			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819	10891	10891		RNA binding motif (RRM) containing	9237	protein-coding gene	gene with protein product		604517	peroxisome proliferative activated receptor, gamma, coactivator 1, peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	PPARGC1	NA	10585775	Standard	NM_013261	NM_013261	NA	Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.651C>T	4.37:g.23830129G>A		NA	Q9UN32	37	CCDS3429.1																																																																																			PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214976.1		-	ENST00000264867.2	Silent	SNP	4 : 23830129 - 23830129 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	553	12
PREPL	9581	broad.mit.edu	37	2	44586652	44586652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:44586652C>T	ENST00000409411.1	-	1	167				PREPL_ENST00000378511.3_Missense_Mutation_p.R68Q|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.R68Q|PREPL_ENST00000409272.1_Missense_Mutation_p.R68Q|PREPL_ENST00000409936.1_Missense_Mutation_p.R68Q|PREPL_ENST00000410081.1_Missense_Mutation_p.R68Q|PREPL_ENST00000378520.3_Missense_Mutation_p.R68Q|PREPL_ENST00000409957.1_Intron	NM_001171613.1	NP_001165084.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	NA					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAGAAGCTCCGACTTGGGAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	138	137			NA	NA	2		NA											NA				44586652		2203	4300	6503	SO:0001627	intron_variant			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078	9581	9581			30228	protein-coding gene	gene with protein product		609557			NA	11524703	Standard	NM_006036	NM_006036	NA	Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409411.1:c.47+1866G>A	2.37:g.44586652C>T		NA	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	37	CCDS54353.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400937	0.83120	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.27	4.38	0.52667	.	0.251803	0.28409	N	0.015459	T	0.48370	0.1496	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.77557	0.975;0.99;0.846	T	0.42085	-0.9472	9	0.30854	T	0.27	-13.6207	10.0499	0.42210	0.0:0.907:0.0:0.093	.	68;68;68	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	Q	68	.	ENSP00000260648:R68Q	R	-	2	0	PREPL	44440156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.885000	0.39678	2.735000	0.93741	0.655000	0.94253	CGG	PREPL-007	NOVEL	alternative_5_UTR|not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327899.6		-	ENST00000409411.1	Intron	SNP	2 : 44586652 - 44586652 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	685	131
PRPF8	10594	broad.mit.edu	37	17	1564593	1564593	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:1564593C>T	ENST00000572621.1	-	26	4575	c.4310G>A	c.(4309-4311)cGt>cAt	p.R1437H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1437H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1437						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTTCTGACACGCCAGCCCTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	138	144			NA	NA	17		NA											NA				1564593		2203	4300	6503	SO:0001583	missense			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231	10594	10594			17340	protein-coding gene	gene with protein product		607300	PRP8 pre-mRNA processing factor 8 homolog (yeast), PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)	RP13	NA	11468273, 10411133	Standard		NM_006445	NA	Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4310G>A	17.37:g.1564593C>T	ENSP00000460348:p.Arg1437His	NA	O14547|O75965	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	29.7	5.028120	0.93518	.	.	ENSG00000174231	ENST00000304992	D	0.85484	-1.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95043	0.8180	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1437	Q6P2Q9	PRP8_HUMAN	H	1437	ENSP00000304350:R1437H	ENSP00000304350:R1437H	R	-	2	0	PRPF8	1511343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	CGT	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438412.2		-	ENST00000572621.1	Missense_Mutation	SNP	17 : 1564593 - 1564593 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	529	99
PSG3	5671	broad.mit.edu	37	19	43237204	43237204	+	Silent	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:43237204G>T	ENST00000327495.5	-	3	625	c.441C>A	c.(439-441)ccC>ccA	p.P147P	PSG3_ENST00000595140.1_Silent_p.P147P	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	147	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGAGGGCTTGGGAGTCTCCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	138	137			NA	NA	19		NA											NA				43237204		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826	5671	5671		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9520	protein-coding gene	gene with protein product		176392			NA	2341148	Standard	NM_021016	NM_021016	NA	Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.441C>A	19.37:g.43237204G>T		NA	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	37	CCDS12611.1																																																																																			PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321423.2		-	ENST00000327495.5	Silent	SNP	19 : 43237204 - 43237204 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	1142	187
RECQL	5965	broad.mit.edu	37	12	21644543	21644543	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:21644543G>T	ENST00000444129.2	-	3	592	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	RECQL_ENST00000421138.2_Missense_Mutation_p.L42M	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	42					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCTTTGTCAGGACTTTTTTT	0.378		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	12		NA											NA				21644543		2203	4300	6503	SO:0001583	missense			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700	5965	5965			9948	protein-coding gene	gene with protein product	DNA helicase Q1-like	600537	RecQ protein-like (DNA helicase Q1-like)		NA	7527136, 7961977	Standard	NM_002907	NM_002907	NA	Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.124C>A	12.37:g.21644543G>T	ENSP00000416739:p.Leu42Met	NA	A8K6G2	37	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704990	0.30232	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964;ENST00000539672	T;T;T;T;D;D;D;D	0.87256	0.29;0.29;0.55;0.54;-2.23;-2.23;-2.23;-1.68	4.33	3.42	0.39159	.	0.087041	0.48767	D	0.000177	D	0.92195	0.7525	M	0.83953	2.67	0.24809	N	0.992651	D	0.89917	1.0	D	0.73380	0.98	D	0.84614	0.0680	10	0.72032	D	0.01	-4.8901	8.4221	0.32707	0.0843:0.0:0.7589:0.1568	.	42	P46063	RECQ1_HUMAN	M	42	ENSP00000416739:L42M;ENSP00000395449:L42M;ENSP00000379400:L42M;ENSP00000318727:L42M;ENSP00000445555:L42M;ENSP00000439069:L42M;ENSP00000446036:L42M;ENSP00000440700:L42M	ENSP00000318727:L42M	L	-	1	2	RECQL	21535810	0.652000	0.27349	0.372000	0.25991	0.193000	0.23685	0.781000	0.26774	1.123000	0.41961	0.655000	0.94253	CTG	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402371.1		-	ENST00000444129.2	Missense_Mutation	SNP	12 : 21644543 - 21644543 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	503	75
SEL1L	6400	broad.mit.edu	37	14	81950645	81950645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:81950645G>A	ENST00000336735.4	-	19	2086	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	657	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTGCTCAGAAGCCAGACGGTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													253	246	249			NA	NA	14		NA											NA				81950645		2203	4300	6503	SO:0001583	missense				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537	6400	6400			10717	protein-coding gene	gene with protein product	sel-1 suppressor of lin-12-like 1 (C. elegans)	602329	sel-1 (suppressor of lin-12, C.elegans)-like		NA	9417916, 10051412, 16331677	Standard	NM_005065	NM_005065	NA	Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1970C>T	14.37:g.81950645G>A	ENSP00000337053:p.Ala657Val	NA	Q6UWT6|Q9P1T9|Q9UHK7	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610409	0.96637	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.65178	-0.14	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87620	0.2509	10	0.87932	D	0	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	657	Q9UBV2	SE1L1_HUMAN	V	657;18	ENSP00000337053:A657V	ENSP00000261258:A18V	A	-	2	0	SEL1L	81020398	1.000000	0.71417	0.916000	0.36221	0.980000	0.70556	9.335000	0.96500	2.809000	0.96659	0.557000	0.71058	GCT	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413325.1		-	ENST00000336735.4	Missense_Mutation	SNP	14 : 81950645 - 81950645 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	1225	46
SERPINB10	5273	broad.mit.edu	37	18	61602106	61602106	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr18:61602106A>C	ENST00000238508.3	+	8	883	c.824A>C	c.(823-825)gAg>gCg	p.E275A	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAGCTGAATGAGTGGACCAGT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	18		NA											NA				61602106		2203	4300	6503	SO:0001583	missense			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550	5273	5273		Serine (or cysteine) peptidase inhibitors	8942	protein-coding gene	gene with protein product	protease inhibitor 10 (ovalbumin type, bomapin)	602058	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10	PI10	NA	9268635, 10871600, 24172014	Standard	NM_005024	NM_005024	NA	Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.824A>C	18.37:g.61602106A>C	ENSP00000238508:p.Glu275Ala	NA		37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	4.321	0.059004	0.08339	.	.	ENSG00000242550	ENST00000238508	D	0.84589	-1.87	5.53	3.07	0.35406	Serpin domain (3);	0.291996	0.37623	N	0.002012	T	0.75649	0.3878	L	0.43701	1.375	0.36153	D	0.847574	B	0.28419	0.211	B	0.28465	0.09	T	0.66976	-0.5787	10	0.12766	T	0.61	.	7.9103	0.29787	0.7907:0.1376:0.0717:0.0	.	275	P48595	SPB10_HUMAN	A	275	ENSP00000238508:E275A	ENSP00000238508:E275A	E	+	2	0	SERPINB10	59753086	0.078000	0.21339	0.629000	0.29254	0.699000	0.40488	1.977000	0.40589	0.446000	0.26666	0.533000	0.62120	GAG	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134012.3		+	ENST00000238508.3	Missense_Mutation	SNP	18 : 61602106 - 61602106 C PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	348	58
SGCD	6444	broad.mit.edu	37	5	155771593	155771593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:155771593G>A	ENST00000435422.3	+	2	582	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	32					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	117	114			NA	NA	5		NA											NA				155771593		1959	4133	6092	SO:0001583	missense			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29				6444	6444			10807	protein-coding gene	gene with protein product		601411	sarcoglycan, delta (35kD dystrophin-associated glycoprotein)		NA	8776597, 8841194, 10974018	Standard		NM_000337	NA	Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.95G>A	5.37:g.155771593G>A	ENSP00000403003:p.Arg32Gln	NA	A8K9S9|Q53XA5|Q99644	37	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719233	0.96839	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.83275	0.992;0.986;0.996	D	0.95484	0.8563	10	0.25751	T	0.34	-9.9405	19.6056	0.95580	0.0:0.0:1.0:0.0	.	32;33;33	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	33;32;33;33	ENSP00000429378:R33Q;ENSP00000403003:R32Q;ENSP00000338343:R33Q;ENSP00000408324:R33Q	ENSP00000338343:R33Q	R	+	2	0	SGCD	155704171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.625000	0.88918	0.655000	0.94253	CGA	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373469.3		+	ENST00000435422.3	Missense_Mutation	SNP	5 : 155771593 - 155771593 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	311	45
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTCATCGACCGCATGAGCTAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	89			NA	NA	10		NA											NA				50819229		2203	4300	6503	SO:0001583	missense			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714	6572	6572		Solute carriers	10936	protein-coding gene	gene with protein product		600336			NA	8071310	Standard	NM_003055	NM_003055	NA	Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.443G>A	10.37:g.50819229G>A	ENSP00000363229:p.Arg148His	NA	B2R7S1	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826104	0.90955	.	.	ENSG00000187714	ENST00000374115	T	0.65549	-0.16	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.83982	0.5372	M	0.93678	3.445	0.58432	D	0.999993	D	0.64830	0.994	D	0.66847	0.947	D	0.88998	0.3419	10	0.87932	D	0	-4.4522	17.8543	0.88758	0.0:0.0:1.0:0.0	.	148	Q16572	VACHT_HUMAN	H	148	ENSP00000363229:R148H	ENSP00000363229:R148H	R	+	2	0	SLC18A3	50489235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.464000	0.97655	2.203000	0.70933	0.561000	0.74099	CGC	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047995.1		+	ENST00000374115.3	Missense_Mutation	SNP	10 : 50819229 - 50819229 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	583	6
SLC47A1	55244	broad.mit.edu	37	17	19458922	19458922	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:19458922A>G	ENST00000436810.2	+	7	701	c.589A>G	c.(589-591)Aac>Gac	p.N197D	SLC47A1_ENST00000542886.1_Missense_Mutation_p.K187R|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000457293.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000270570.4_Missense_Mutation_p.N220D			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	220						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGCACTGGCAAACTTGATTTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	112	115			NA	NA	17		NA											NA				19458922		2203	4300	6503	SO:0001583	missense				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494	55244	55244		Solute carriers	25588	protein-coding gene	gene with protein product	multidrug and toxin extrusion 1	609832			NA	16330770, 16996621, 16928787	Standard	NM_018242	NM_018242	NA	Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000436810.2:c.589A>G	17.37:g.19458922A>G	ENSP00000407155:p.Asn197Asp	NA	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.34|14.34	2.506537|2.506537	0.44558|0.44558	.|.	.|.	ENSG00000142494|ENSG00000142494	ENST00000542886|ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585	.|T;T;T;T	.|0.32272	.|1.51;1.46;1.46;1.46	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.082064	.|0.85682	.|D	.|0.000000	T|T	0.50257|0.50257	0.1605|0.1605	H|H	0.95260|0.95260	3.645|3.645	0.32301|0.32301	N|N	0.565074|0.565074	.|B;B;B	.|0.33238	.|0.403;0.059;0.04	.|B;B;B	.|0.34873	.|0.191;0.067;0.078	T|T	0.69109|0.69109	-0.5232|-0.5232	6|10	0.14656|0.66056	T|D	0.56|0.02	-5.1336|-5.1336	14.5405|14.5405	0.67990|0.67990	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|197;220;220	.|E7EX57;Q96FL8;Q96FL8-3	.|.;S47A1_HUMAN;.	R|D	187|197;220;220;220	.|ENSP00000407155:N197D;ENSP00000270570:N220D;ENSP00000415586:N220D;ENSP00000378951:N220D	ENSP00000440435:K187R|ENSP00000270570:N220D	K|N	+|+	2|1	0|0	SLC47A1|SLC47A1	19399514|19399514	1.000000|1.000000	0.71417|0.71417	0.729000|0.729000	0.30791|0.30791	0.302000|0.302000	0.27658|0.27658	6.624000|6.624000	0.74243|0.74243	2.036000|2.036000	0.60181|0.60181	0.529000|0.529000	0.55759|0.55759	AAA|AAC	SLC47A1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440972.1		+	ENST00000436810.2	Missense_Mutation	SNP	17 : 19458922 - 19458922 G PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	325	84
SNAPC4	6621	broad.mit.edu	37	9	139289824	139289824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:139289824C>T	ENST00000298532.2	-	4	765	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	133	SNAPC5-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGCTTTTGCCATCTTTCACC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	102	106			NA	NA	9		NA											NA				139289824		2203	4300	6503	SO:0001583	missense			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684	6621	6621			11137	protein-coding gene	gene with protein product		602777	small nuclear RNA activating complex, polypeptide 4, 190kD		NA	9418884	Standard	NM_003086	XM_005266096	NA	Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.397G>A	9.37:g.139289824C>T	ENSP00000298532:p.Gly133Ser	NA	Q9Y6P7	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	6.565	0.472500	0.12461	.	.	ENSG00000165684	ENST00000298532	T	0.28255	1.62	5.35	-2.81	0.05805	.	1.072810	0.07153	N	0.849409	T	0.25791	0.0628	L	0.48362	1.52	0.09310	N	0.999994	B	0.28378	0.209	B	0.22880	0.042	T	0.25012	-1.0144	10	0.52906	T	0.07	-3.3704	10.5123	0.44868	0.0:0.4466:0.0:0.5534	.	133	Q5SXM2	SNPC4_HUMAN	S	133	ENSP00000298532:G133S	ENSP00000298532:G133S	G	-	1	0	SNAPC4	138409645	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.062000	0.11674	-0.992000	0.03472	-1.074000	0.02243	GGC	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055071.1		-	ENST00000298532.2	Missense_Mutation	SNP	9 : 139289824 - 139289824 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	274	9
SSH1	54434	broad.mit.edu	37	12	109186420	109186420	+	Missense_Mutation	SNP	C	C	T	rs146699038	by1000genomes	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:109186420C>T	ENST00000326495.5	-	14	1628	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	SSH1_ENST00000551165.1_Missense_Mutation_p.R512Q|SSH1_ENST00000360239.3_Missense_Mutation_p.R200Q|SSH1_ENST00000326470.5_Missense_Mutation_p.R523Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	512					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAGAGTCGCCGGAAACAGCA	0.637		NA											C	1	5e-04	0.002	NA	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.7841	LOWCOV	NA	NA	3e-04	SNP								NA				0								C	GLN/ARG,GLN/ARG,GLN/ARG	8,4394		0,8,2193	31	38	36		1535,1568,1535	4.6	0.8	12	dbSNP_134	36	0,8594		0,0,4297	yes	missense,missense,missense	SSH1	NM_001161330.1,NM_001161331.1,NM_018984.3	43,43,43	0,8,6490	TT,TC,CC	NA	0.0,0.1817,0.0616	probably-damaging,probably-damaging,probably-damaging	512/693,523/704,512/1050	109186420	8,12988	2201	4297	6498	SO:0001583	missense			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112	54434	54434		Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots	30579	protein-coding gene	gene with protein product		606778	slingshot homolog 1 (Drosophila)		NA	10718198, 11832213	Standard	NM_018984	NM_018984	NA	Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1535G>A	12.37:g.109186420C>T	ENSP00000315713:p.Arg512Gln	NA	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	37	CCDS9121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.68	2.607225	0.46527	0.001817	0.0	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.15834	2.39;2.4;2.49;2.46	5.48	4.6	0.57074	.	3.113600	0.01024	N	0.004037	T	0.23054	0.0557	M	0.71581	2.175	0.39015	D	0.959636	P;B;P;P	0.39624	0.681;0.218;0.569;0.681	B;B;B;B	0.26614	0.071;0.016;0.07;0.071	T	0.39563	-0.9608	10	0.37606	T	0.19	-25.6956	12.894	0.58089	0.0:0.9248:0.0:0.0752	.	523;512;512;200	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	Q	200;512;512;523	ENSP00000353374:R200Q;ENSP00000315713:R512Q;ENSP00000448824:R512Q;ENSP00000326107:R523Q	ENSP00000326107:R523Q	R	-	2	0	SSH1	107710549	0.990000	0.36364	0.815000	0.32552	0.069000	0.16628	2.653000	0.46691	1.460000	0.47911	-0.136000	0.14681	CGG	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403724.1		-	ENST00000326495.5	Missense_Mutation	SNP	12 : 109186420 - 109186420 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	254	7
TDRD5	163589	broad.mit.edu	37	1	179604922	179604922	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:179604922G>T	ENST00000367614.1	+	9	1779	c.1420G>T	c.(1420-1422)Ggg>Tgg	p.G474W	TDRD5_ENST00000294848.8_Missense_Mutation_p.G474W|TDRD5_ENST00000444136.1_Missense_Mutation_p.G474W	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	474					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCCCTCATAGGGGTCTTTGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	1		NA											NA				179604922		2203	4300	6503	SO:0001583	missense			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782	163589	163589		Tudor domain containing	20614	protein-coding gene	gene with protein product					NA		Standard	NM_173533	NM_001199085	NA	Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1420G>T	1.37:g.179604922G>T	ENSP00000356586:p.Gly474Trp	NA	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058568	0.76074	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.09723	2.95;2.95;2.95	4.94	4.94	0.65067	Maternal tudor protein (1);	0.299142	0.33272	N	0.005083	T	0.28797	0.0714	L	0.52011	1.625	0.46203	D	0.998927	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01309	-1.1389	10	0.72032	D	0.01	-19.4684	16.7233	0.85415	0.0:0.0:1.0:0.0	.	474;474	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	W	474	ENSP00000356586:G474W;ENSP00000294848:G474W;ENSP00000406052:G474W	ENSP00000294848:G474W	G	+	1	0	TDRD5	177871545	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.639000	0.74314	2.279000	0.76181	0.585000	0.79938	GGG	TDRD5-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085295.1		+	ENST00000367614.1	Missense_Mutation	SNP	1 : 179604922 - 179604922 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	318	38
TENM3	55714	broad.mit.edu	37	4	183673042	183673042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:183673042G>A	ENST00000511685.1	+	20	3842	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1240H					teneurin transmembrane protein 3	NA											NA						AGAATTTATCGCCCAAAGTCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	97	97			NA	NA	4		NA											NA				183673042		1916	4121	6037	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3719G>A	4.37:g.183673042G>A	ENSP00000424226:p.Arg1240His	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393194	0.96009	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91407	-2.84;-2.84	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.96818	0.8961	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.97440	1.0021	9	0.87932	D	0	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	1240	Q9P273	TEN3_HUMAN	H	1240	ENSP00000424226:R1240H;ENSP00000385276:R1240H	ENSP00000385276:R1240H	R	+	2	0	ODZ3	183910036	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.601000	0.98297	2.806000	0.96561	0.655000	0.94253	CGC	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183673042 - 183673042 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	324	6
TIAM2	26230	broad.mit.edu	37	6	155451469	155451469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:155451469C>T	ENST00000461783.3	+	6	2385	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	TIAM2_ENST00000360366.4_Missense_Mutation_p.A371V|TIAM2_ENST00000318981.5_Missense_Mutation_p.A371V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A371V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A371V|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	371					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGGATACTGCGAAGAAGGAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	70	71			NA	NA	6		NA											NA				155451469		2203	4300	6503	SO:0001583	missense				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426	26230	26230		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11806	protein-coding gene	gene with protein product		604709			NA	10512681	Standard	NM_012454	NM_012454	NA	Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1112C>T	6.37:g.155451469C>T	ENSP00000437188:p.Ala371Val	NA	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126396	0.37533	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05382	3.57;3.45;3.51;3.57;3.57;3.51	5.29	5.29	0.74685	.	0.813614	0.11671	N	0.540830	T	0.03608	0.0103	L	0.40543	1.245	0.47407	D	0.999411	B	0.29909	0.261	B	0.19148	0.024	T	0.35276	-0.9795	10	0.59425	D	0.04	.	17.1487	0.86773	0.0:1.0:0.0:0.0	.	371	Q8IVF5	TIAM2_HUMAN	V	371;617;371;371;371;371;371	ENSP00000437188:A371V;ENSP00000434901:A371V;ENSP00000407746:A371V;ENSP00000327315:A371V;ENSP00000353528:A371V;ENSP00000433348:A371V	ENSP00000327315:A371V	A	+	2	0	TIAM2	155493161	0.002000	0.14202	0.364000	0.25888	0.430000	0.31655	1.419000	0.34793	2.489000	0.83994	0.655000	0.94253	GCG	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387980.2		+	ENST00000461783.3	Missense_Mutation	SNP	6 : 155451469 - 155451469 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	199	12
TMC7	79905	broad.mit.edu	37	16	19049313	19049313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:19049313G>A	ENST00000421369.3	+	8	1351	c.793G>A	c.(793-795)Gca>Aca	p.A265T	TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Missense_Mutation_p.A375T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	375						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGTTTTAGGGGCATGCTTTTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	188	199			NA	NA	16		NA											NA				19049313		2197	4300	6497	SO:0001583	missense			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537	79905	79905			23000	protein-coding gene	gene with protein product					NA	12812529, 12906855	Standard	NM_024847	XM_005255597	NA	Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000421369.3:c.793G>A	16.37:g.19049313G>A	ENSP00000397081:p.Ala265Thr	NA	Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	37	CCDS53992.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328730	0.41197	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.55052	0.54;0.54	5.5	3.44	0.39384	.	0.355140	0.27866	N	0.017521	T	0.44644	0.1303	L	0.52011	1.625	0.09310	N	1	B;B	0.33549	0.417;0.417	B;B	0.34093	0.175;0.133	T	0.46512	-0.9186	10	0.56958	D	0.05	.	9.7628	0.40543	0.0746:0.0:0.7848:0.1405	.	375;375	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	375;265	ENSP00000304710:A375T;ENSP00000397081:A265T	ENSP00000304710:A375T	A	+	1	0	TMC7	18956814	0.841000	0.29509	0.039000	0.18376	0.474000	0.32979	3.975000	0.56859	2.588000	0.87417	0.650000	0.86243	GCA	TMC7-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435808.1		+	ENST00000421369.3	Missense_Mutation	SNP	16 : 19049313 - 19049313 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	637	6
TRIM42	287015	broad.mit.edu	37	3	140407107	140407107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:140407107G>A	ENST00000286349.3	+	3	1774	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	528						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAGCCTCGGCAACCAGCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	89	91			NA	NA	3		NA											NA				140407107		2203	4300	6503	SO:0001583	missense			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890	287015	287015		Tripartite motif containing / Tripartite motif containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers	19014	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 40		tripartite motif-containing 42		NA		Standard	NM_152616	NM_152616	NA	Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1583G>A	3.37:g.140407107G>A	ENSP00000286349:p.Gly528Asp	NA	A1L4B4|Q8N832|Q8NDL3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491250	0.12702	.	.	ENSG00000155890	ENST00000286349	T	0.36699	1.24	5.52	-4.17	0.03857	.	0.998540	0.08106	N	0.996959	T	0.15998	0.0385	N	0.24115	0.695	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.30736	-0.9968	10	0.10111	T	0.7	-11.6821	1.9929	0.03450	0.3788:0.1671:0.3411:0.113	.	528	Q8IWZ5	TRI42_HUMAN	D	528	ENSP00000286349:G528D	ENSP00000286349:G528D	G	+	2	0	TRIM42	141889797	0.000000	0.05858	0.007000	0.13788	0.846000	0.48090	-0.386000	0.07370	-0.646000	0.05452	0.655000	0.94253	GGC	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359531.2		+	ENST00000286349.3	Missense_Mutation	SNP	3 : 140407107 - 140407107 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	427	6
TRPM6	140803	broad.mit.edu	37	9	77390934	77390934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:77390934G>A	ENST00000360774.1	-	24	3505	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1090C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1090					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGATGTAGCGATAGCGGTTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	127	124			NA	NA	9		NA											NA				77390934		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3268C>T	9.37:g.77390934G>A	ENSP00000354006:p.Arg1090Cys	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120843	0.94385	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55588	0.6;0.6;0.6;0.6;0.51	5.76	5.76	0.90799	.	0.046412	0.85682	D	0.000000	T	0.72779	0.3503	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67900	0.932;0.931;0.954	T	0.74426	-0.3669	10	0.87932	D	0	.	19.9561	0.97218	0.0:0.0:1.0:0.0	.	1090;1085;1085	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	C	1090;1090;1085;1085;1090;753;753	ENSP00000354006:R1090C;ENSP00000407341:R1090C;ENSP00000396672:R1085C;ENSP00000354962:R1085C;ENSP00000366060:R1090C	ENSP00000309693:R753C	R	-	1	0	TRPM6	76580754	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.827000	0.86722	2.725000	0.93324	0.591000	0.81541	CGC	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77390934 - 77390934 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	420	12
VPS25	84313	broad.mit.edu	37	17	40925498	40925498	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:40925498C>A	ENST00000253794.2	+	1	45	c.5C>A	c.(4-6)gCg>gAg	p.A2E		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	2					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACTACGATGGCGATGAGTTTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	159	168			NA	NA	17		NA											NA				40925498		2203	4300	6503	SO:0001583	missense			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475	84313	84313			28122	protein-coding gene	gene with protein product		610907	vacuolar protein sorting 25 (yeast)		NA	15511219	Standard	NM_032353	NM_032353	NA	Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.5C>A	17.37:g.40925498C>A	ENSP00000253794:p.Ala2Glu	NA	B2R581	37	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496557	0.64186	.	.	ENSG00000131475	ENST00000253794	T	0.47869	0.83	4.95	4.95	0.65309	.	0.067954	0.56097	D	0.000024	T	0.35799	0.0944	N	0.24115	0.695	0.48341	D	0.999631	B	0.11235	0.004	B	0.11329	0.006	T	0.19811	-1.0294	10	0.62326	D	0.03	-16.8888	13.689	0.62533	0.0:1.0:0.0:0.0	.	2	Q9BRG1	VPS25_HUMAN	E	2	ENSP00000253794:A2E	ENSP00000253794:A2E	A	+	2	0	VPS25	38179024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.300000	0.43620	2.292000	0.77174	0.491000	0.48974	GCG	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452383.1		+	ENST00000253794.2	Missense_Mutation	SNP	17 : 40925498 - 40925498 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	780	109
WDR48	57599	broad.mit.edu	37	3	39118643	39118643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:39118643G>A	ENST00000302313.5	+	9	939	c.911G>A	c.(910-912)aGa>aAa	p.R304K	WDR48_ENST00000396258.3_Missense_Mutation_p.R222K|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R96K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	304					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGCTTGATAGATCAGCTGAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	110			NA	NA	3		NA											NA				39118643		2203	4300	6503	SO:0001583	missense			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742	57599	57599		WD repeat domain containing	30914	protein-coding gene	gene with protein product		612167			NA	10819331, 12196293, 24482476	Standard	NM_020839	NM_020839	NA	Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.911G>A	3.37:g.39118643G>A	ENSP00000307491:p.Arg304Lys	NA	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	37	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948961	0.53186	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.87809	2.28;-2.3;2.25	6.16	6.16	0.99307	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88489	0.6450	N	0.22421	0.69	0.80722	D	1	P;B;B;B	0.47910	0.902;0.046;0.003;0.024	P;B;B;B	0.60173	0.87;0.007;0.001;0.002	D	0.84664	0.0708	10	0.22706	T	0.39	-0.2443	20.8598	0.99761	0.0:0.0:1.0:0.0	.	96;222;295;304	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	304;96;222	ENSP00000307491:R304K;ENSP00000445187:R96K;ENSP00000379557:R222K	ENSP00000307491:R304K	R	+	2	0	WDR48	39093647	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.771000	0.98977	2.937000	0.99478	0.650000	0.86243	AGA	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342529.1		+	ENST00000302313.5	Missense_Mutation	SNP	3 : 39118643 - 39118643 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	356	69
WSCD1	23302	broad.mit.edu	37	17	6023840	6023840	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:6023840G>A	ENST00000574946.1	+	9	1977	c.1587G>A	c.(1585-1587)cgG>cgA	p.R529R	WSCD1_ENST00000317744.5_Silent_p.R529R|WSCD1_ENST00000539421.1_Silent_p.R529R|WSCD1_ENST00000574232.1_Silent_p.R529R|WSCD1_ENST00000573634.1_Silent_p.R413R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	529						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCAGCTTCCGGCGGCGCGGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	59			NA	NA	17		NA											NA				6023840		2202	4300	6502	SO:0001819	synonymous_variant				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314	23302	23302			29060	protein-coding gene	gene with protein product					NA		Standard	NM_015253	XM_005256572	NA	Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1587G>A	17.37:g.6023840G>A		NA	A8K0N8|D3DTM3|O60276|Q96G45	37	CCDS32538.1																																																																																			WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438965.4		+	ENST00000574946.1	Silent	SNP	17 : 6023840 - 6023840 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	256	68
WWP2	11060	broad.mit.edu	37	16	69969883	69969883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:69969883G>A	ENST00000359154.2	+	18	2071	c.1970G>A	c.(1969-1971)tGg>tAg	p.W657*	WWP2_ENST00000356003.2_Nonsense_Mutation_p.W657*|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W657*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W541*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W218*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	657	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCATTGTCTGGATCAAGTGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	130	134			NA	NA	16		NA											NA				69969883		2198	4300	6498	SO:0001587	stop_gained			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373	11060	11060			16804	protein-coding gene	gene with protein product		602308			NA	9169421, 12167593	Standard	NM_007014	NM_007014	NA	Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1970G>A	16.37:g.69969883G>A	ENSP00000352069:p.Trp657*	NA	A6NEP1|B2R706|Q96CZ2|Q9BWN6	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	39	7.554393	0.98355	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.7	5.7	0.88788	.	0.105878	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.843	0.96697	0.0:0.0:1.0:0.0	.	.	.	.	X	657;218;657;657;544;541	.	.	W	+	2	0	WWP2	68527384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	TGG	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268954.1		+	ENST00000359154.2	Nonsense_Mutation	SNP	16 : 69969883 - 69969883 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	488	93
ZDBF2	57683	broad.mit.edu	37	2	207171284	207171284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:207171284G>T	ENST00000374423.3	+	5	2418	c.2032G>T	c.(2032-2034)Gac>Tac	p.D678Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	678							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAATTAGCTGACCAGTCTCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	70	71			NA	NA	2		NA											NA				207171284		1895	4132	6027	SO:0001583	missense			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186	57683	57683		Zinc fingers, DBF-type	29313	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020923	XM_005246711	NA	Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2032G>T	2.37:g.207171284G>T	ENSP00000363545:p.Asp678Tyr	NA	Q6ZNP7|Q6ZSN8	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287181	0.40494	.	.	ENSG00000204186	ENST00000374423	T	0.54675	0.56	4.24	3.33	0.38152	.	0.943578	0.08666	N	0.911684	T	0.57330	0.2046	L	0.34521	1.04	0.09310	N	1	D	0.69078	0.997	P	0.58577	0.841	T	0.47156	-0.9139	10	0.66056	D	0.02	.	9.9562	0.41668	0.0:0.2064:0.7936:0.0	.	678	Q9HCK1	ZDBF2_HUMAN	Y	678	ENSP00000363545:D678Y	ENSP00000363545:D678Y	D	+	1	0	ZDBF2	206879529	0.012000	0.17670	0.014000	0.15608	0.007000	0.05969	1.571000	0.36450	1.318000	0.45170	0.655000	0.94253	GAC	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336458.1		+	ENST00000374423.3	Missense_Mutation	SNP	2 : 207171284 - 207171284 T PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	200	31
ZHX2	22882	broad.mit.edu	37	8	123965170	123965170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:123965170G>A	ENST00000314393.4	+	3	2255	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	474	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGGCTCATCGAGGTGACTGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(94;1056 1388 11767 13799 49639)							NA				0								G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	87	86	87		1420	5.1	1	8		87	0,8600		0,0,4300	no	missense	ZHX2	NM_014943.3	56	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	474/838	123965170	1,13005	2203	4300	6503	SO:0001583	missense			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764	22882	22882		Zinc fingers, C2H2-type, Homeoboxes / ZF class	18513	protein-coding gene	gene with protein product		609185	zinc-fingers and homeoboxes 2		NA	10048485, 12741956	Standard	NM_014943	XM_005250837	NA	Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1420G>A	8.37:g.123965170G>A	ENSP00000314709:p.Glu474Lys	NA		37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765980	0.31228	2.27E-4	0.0	ENSG00000178764	ENST00000314393	D	0.95949	-3.86	5.94	5.07	0.68467	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.102570	0.64402	D	0.000003	D	0.90106	0.6909	N	0.21448	0.665	0.80722	D	1	B	0.24043	0.096	B	0.20577	0.03	D	0.86463	0.1780	10	0.09843	T	0.71	-24.8951	15.4187	0.74995	0.0667:0.0:0.9333:0.0	.	474	Q9Y6X8	ZHX2_HUMAN	K	474	ENSP00000314709:E474K	ENSP00000314709:E474K	E	+	1	0	ZHX2	124034351	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.641000	0.83368	1.531000	0.49152	0.561000	0.74099	GAG	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381709.1		+	ENST00000314393.4	Missense_Mutation	SNP	8 : 123965170 - 123965170 A PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	175	5
ZNF667	63934	broad.mit.edu	37	19	56953041	56953041	+	Silent	SNP	T	T	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:56953041T>C	ENST00000591790.1	-	0	2902				ZNF667_ENST00000504904.3_Silent_p.K441K|ZNF667_ENST00000292069.6_Silent_p.K441K|ZNF667_ENST00000342634.3_Silent_p.K569K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTTGAAAGGTTTCTCTTCAG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	19		NA											NA				56953041		2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046	63934	63934		Zinc fingers, C2H2-type, -	28854	protein-coding gene	gene with protein product		611024			NA		Standard	NM_022103	NM_022103	NA	Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000591790.1:c.*1090A>G	19.37:g.56953041T>C		NA	B2RMS6|B9EK36|Q6B093|Q9H807	37																																																																																				ZNF667-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458393.2		-	ENST00000591790.1	3'UTR	SNP	19 : 56953041 - 56953041 C PAAD-TCGA-IB-AAUO-Tumor-SM-5W7VA	429	12
