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
ACE	1636	broad.mit.edu	37	17	61561229	61561229	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:61561229C>G	ENST00000290866.4	+	11	1630	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V	ACE_ENST00000428043.1_Missense_Mutation_p.L536V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	536	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGTTTTGTCCTGCAGTTCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	93	98			NA	NA	17		NA											NA				61561229		2203	4300	6503	SO:0001583	missense			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	1636	1636	3.4.15.1	CD molecules	2707	protein-coding gene	gene with protein product	peptidyl-dipeptidase A	106180	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	DCP1	NA	2554286, 10319862	Standard		NM_001178057	NA	Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1606C>G	17.37:g.61561229C>G	ENSP00000290866:p.Leu536Val	NA	B0LPF0|P22966|Q53YX9|Q59GY8|Q7M4L4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523209	0.44866	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.37058	1.22;1.22	5.7	5.7	0.88788	.	0.070737	0.64402	D	0.000016	T	0.51329	0.1668	M	0.64404	1.975	0.80722	D	1	B;B	0.33212	0.242;0.402	B;P	0.52481	0.077;0.7	T	0.52881	-0.8516	10	0.49607	T	0.09	-19.1735	8.9337	0.35686	0.1493:0.7772:0.0:0.0736	.	536;536	P12821-2;P12821	.;ACE_HUMAN	V	536	ENSP00000290866:L536V;ENSP00000397593:L536V	ENSP00000290866:L536V	L	+	1	2	ACE	58914961	0.937000	0.31787	0.990000	0.47175	0.945000	0.59286	1.512000	0.35812	2.695000	0.91970	0.462000	0.41574	CTG	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337675.2		+	ENST00000290866.4	Missense_Mutation	SNP	17 : 61561229 - 61561229 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	873	175
ACTL9	284382	broad.mit.edu	37	19	8808115	8808115	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:8808115C>T	ENST00000324436.3	-	1	1057	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	313						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GAGAGGCCGACGGGTGACAGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	38			NA	NA	19		NA											NA				8808115		2200	4295	6495	SO:0001583	missense				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786	284382	284382			28494	protein-coding gene	gene with protein product					NA		Standard	NM_178525	NM_178525	NA	Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.937G>A	19.37:g.8808115C>T	ENSP00000316674:p.Val313Ile	NA	A8K893|Q6X960	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	1.890	-0.455680	0.04540	.	.	ENSG00000181786	ENST00000324436	D	0.94650	-3.48	4.63	-2.91	0.05631	.	1.123610	0.06989	N	0.821237	D	0.83575	0.5284	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.73263	-0.4038	10	0.87932	D	0	.	4.8829	0.13688	0.3641:0.4335:0.0:0.2024	.	313	Q8TC94	ACTL9_HUMAN	I	313	ENSP00000316674:V313I	ENSP00000316674:V313I	V	-	1	0	ACTL9	8669115	0.000000	0.05858	0.007000	0.13788	0.046000	0.14306	-0.972000	0.03802	-0.140000	0.11394	-0.851000	0.03033	GTC	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459953.1		-	ENST00000324436.3	Missense_Mutation	SNP	19 : 8808115 - 8808115 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	642	97
AHR	196	broad.mit.edu	37	7	17378954	17378954	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:17378954C>A	ENST00000242057.4	+	10	2148	c.1505C>A	c.(1504-1506)cCg>cAg	p.P502Q	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	502					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P502L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AATACTGCACCGATGGGAAAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											86	85	86			NA	NA	7		NA											NA				17378954		2203	4300	6503	SO:0001583	missense			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546	196	196		Basic helix-loop-helix proteins	348	protein-coding gene	gene with protein product		600253			NA	8125016	Standard	NM_001621	NM_001621	NA	Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1505C>A	7.37:g.17378954C>A	ENSP00000242057:p.Pro502Gln	NA	A4D130|Q13728|Q13803|Q13804	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514694	0.27123	.	.	ENSG00000106546	ENST00000242057	T	0.05786	3.39	5.7	4.82	0.62117	.	0.398744	0.27836	N	0.017645	T	0.25901	0.0631	M	0.86953	2.85	0.19575	N	0.999967	P	0.42556	0.783	P	0.55577	0.779	T	0.05241	-1.0897	10	0.54805	T	0.06	.	15.2134	0.73244	0.0:0.9322:0.0:0.0678	.	502	P35869	AHR_HUMAN	Q	502	ENSP00000242057:P502Q	ENSP00000242057:P502Q	P	+	2	0	AHR	17345479	0.480000	0.25933	0.002000	0.10522	0.004000	0.04260	6.452000	0.73485	1.548000	0.49413	0.650000	0.86243	CCG	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314620.2		+	ENST00000242057.4	Missense_Mutation	SNP	7 : 17378954 - 17378954 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	887	167
APOB	338	broad.mit.edu	37	2	21238344	21238344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:21238344C>A	ENST00000233242.1	-	22	3533	c.3406G>T	c.(3406-3408)Gag>Tag	p.E1136*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1136					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCGAGGATCTCACTTCTGGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	136	140			NA	NA	2		NA											NA				21238344		2203	4300	6503	SO:0001587	stop_gained			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3406G>T	2.37:g.21238344C>A	ENSP00000233242:p.Glu1136*	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	43	9.881007	0.99286	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.9432	0.89031	0.0:1.0:0.0:0.0	.	.	.	.	X	1136	.	ENSP00000233242:E1136X	E	-	1	0	APOB	21091849	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	4.931000	0.63469	2.767000	0.95098	0.655000	0.94253	GAG	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Nonsense_Mutation	SNP	2 : 21238344 - 21238344 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	481	35
AREL1	9870	broad.mit.edu	37	14	75136745	75136745	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:75136745C>G	ENST00000356357.4	-	14	2208	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						AGAGAGGACTCATAGAGACAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	14		NA											NA				75136745		1911	4126	6037	SO:0001583	missense			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682	9870	9870			20363	protein-coding gene	gene with protein product		615380	KIAA0317	KIAA0317	NA	9205841, 23479728	Standard	NM_014821	XM_006720344	NA	Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1693G>C	14.37:g.75136745C>G	ENSP00000348714:p.Glu565Gln	NA		37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541436	0.96474	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.47177	0.85;0.85	6.02	6.02	0.97574	HECT (4);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79037	-0.1967	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	565	O15033	K0317_HUMAN	Q	565;404;404	ENSP00000348714:E565Q;ENSP00000452101:E404Q	ENSP00000348714:E565Q	E	-	1	0	KIAA0317	74206498	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	GAG	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335517.2		-	ENST00000356357.4	Missense_Mutation	SNP	14 : 75136745 - 75136745 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	826	71
ASTN1	460	broad.mit.edu	37	1	177001821	177001821	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:177001821G>A	ENST00000367657.3	-	3	826	c.636C>T	c.(634-636)caC>caT	p.H212H	ASTN1_ENST00000424564.2_Silent_p.H212H|ASTN1_ENST00000367654.3_Silent_p.H212H|ASTN1_ENST00000361833.2_Silent_p.H212H|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	212					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCCCGTCCGTGCCCGCCGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	53	57			NA	NA	1		NA											NA				177001821		2203	4300	6503	SO:0001819	synonymous_variant			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092	460	460			773	protein-coding gene	gene with protein product		600904	astrotactin	ASTN	NA	9070947	Standard	NM_004319	NM_001286164	NA	Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367657.3:c.636C>T	1.37:g.177001821G>A		NA	O60799|Q5W0V7|Q5W0V8	37																																																																																				ASTN1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000084823.1		-	ENST00000367657.3	Silent	SNP	1 : 177001821 - 177001821 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	497	47
AZU1	566	broad.mit.edu	37	19	829611	829611	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:829611C>T	ENST00000233997.2	+	3	286	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	89	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGAGGCGGCGGGAGAGGCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	69	66	67		265	1.1	0.2	19		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	AZU1	NM_001700.3	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	89/252	829611	1,13005	2203	4300	6503	SO:0001583	missense			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232	566	566			913	protein-coding gene	gene with protein product	cationic antimicrobial protein 37, heparin-binding protein, neutrophil azurocidin	162815			NA	1919011	Standard	NM_001700	NM_001700	NA	Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.265C>T	19.37:g.829611C>T	ENSP00000233997:p.Arg89Trp	NA	P80014|Q52LG4|Q9UCM1|Q9UCT5	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671754	0.47781	0.0	1.16E-4	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.89270	-2.49	1.14	1.14	0.20703	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90700	0.7082	L	0.50333	1.59	0.26930	N	0.966493	D	0.89917	1.0	D	0.69142	0.962	T	0.81048	-0.1109	9	0.62326	D	0.03	.	8.1582	0.31183	0.0:1.0:0.0:0.0	.	89	P20160	CAP7_HUMAN	W	103;89	ENSP00000233997:R89W	ENSP00000233997:R89W	R	+	1	2	AZU1	780611	0.000000	0.05858	0.212000	0.23672	0.359000	0.29487	0.008000	0.13197	0.941000	0.37499	0.491000	0.48974	CGG	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457472.2		+	ENST00000233997.2	Missense_Mutation	SNP	19 : 829611 - 829611 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	592	14
CALN1	83698	broad.mit.edu	37	7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:71252834C>T	ENST00000395275.2	-	7	1100	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000329008.5_Missense_Mutation_p.A196T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	100	109			NA	NA	7		NA											NA				71252834		2203	4300	6503	SO:0001583	missense			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166	83698	83698		EF-hand domain containing	13248	protein-coding gene	gene with protein product	calcium-binding protein CABP8	607176			NA	11286509	Standard	NM_031468	NM_031468	NA	Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000395275.2:c.712G>A	7.37:g.71252834C>T	ENSP00000378690:p.Ala238Thr	NA		37	CCDS47603.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176133	0.94846	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80123	-1.1;-1.34;-1.1;-1.1;-1.34;-1.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86975	0.2100	10	0.87932	D	0	-25.7589	17.5493	0.87872	0.0:1.0:0.0:0.0	.	196;196	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	T	196;238;196;196;238;196	ENSP00000332498:A196T;ENSP00000378690:A238T;ENSP00000378691:A196T;ENSP00000410704:A196T;ENSP00000391882:A238T;ENSP00000384354:A196T	ENSP00000332498:A196T	A	-	1	0	CALN1	70890770	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GCC	CALN1-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320083.1		-	ENST00000395275.2	Missense_Mutation	SNP	7 : 71252834 - 71252834 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	535	30
CDH8	1006	broad.mit.edu	37	16	61935231	61935231	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:61935231G>A	ENST00000299345.6	-	3	1353	c.399C>T	c.(397-399)acC>acT	p.T133T	CDH8_ENST00000577390.1_Silent_p.T133T|CDH8_ENST00000577730.1_Silent_p.T133T|CDH8_ENST00000584337.1_Silent_p.T133T			P55286	CADH8_HUMAN	cadherin 8, type 2	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGCTGTTAGGGTATACTCAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	132	133			NA	NA	16		NA											NA				61935231		2203	4300	6503	SO:0001819	synonymous_variant			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394	1006	1006		Cadherins / Major cadherins	1767	protein-coding gene	gene with protein product		603008			NA	9615235, 2059658	Standard	NM_001796	NM_001796	NA	Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000299345.6:c.399C>T	16.37:g.61935231G>A		NA	B3KWC1|Q14DC6|Q9ULB2	37																																																																																				CDH8-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000431170.1		-	ENST00000299345.6	Silent	SNP	16 : 61935231 - 61935231 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	823	109
CNGA4	1262	broad.mit.edu	37	11	6265298	6265298	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:6265298A>G	ENST00000379936.2	+	6	1502	c.1387A>G	c.(1387-1389)Atc>Gtc	p.I463V		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	463					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAGACCATCATGGAGGA	0.552		NA											A	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	2e-04	SNP								NA				0													115	95	102			NA	NA	11		NA											NA				6265298		2201	4296	6497	SO:0001583	missense			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259	1262	1262		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2152	protein-coding gene	gene with protein product		609472	cyclic nucleotide gated channel beta 2	CNCA2, CNGB2	NA	11764791, 16382102	Standard	NM_001037329	NM_001037329	NA	Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1387A>G	11.37:g.6265298A>G	ENSP00000369268:p.Ile463Val	NA		37	CCDS31408.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.009	-1.801041	0.00611	.	.	ENSG00000132259	ENST00000379936	D	0.96651	-4.08	5.19	2.34	0.29019	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.302345	0.31507	N	0.007531	D	0.84101	0.5398	N	0.02751	-0.505	0.20821	N	0.999842	B	0.02656	0.0	B	0.01281	0.0	T	0.73503	-0.3962	10	0.05620	T	0.96	.	4.5823	0.12264	0.3302:0.1519:0.5179:0.0	.	463	Q8IV77	CNGA4_HUMAN	V	463	ENSP00000369268:I463V	ENSP00000369268:I463V	I	+	1	0	CNGA4	6221874	0.000000	0.05858	0.384000	0.26145	0.471000	0.32888	0.124000	0.15728	0.369000	0.24510	-0.804000	0.03201	ATC	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383765.2		+	ENST00000379936.2	Missense_Mutation	SNP	11 : 6265298 - 6265298 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	626	169
CXCR1	3577	broad.mit.edu	37	2	219029412	219029412	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:219029412G>A	ENST00000295683.2	-	2	643	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	175					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R175C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TAAGCCTGGCGGAAAAGGAAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											84	74	77			NA	NA	2		NA											NA				219029412		2203	4300	6503	SO:0001583	missense			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464	3577	3577		CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif, Interleukins and interleukin receptors	6026	protein-coding gene	gene with protein product		146929	interleukin 8 receptor, alpha	CMKAR1, IL8RA	NA	1303245, 1427896	Standard	NM_000634	NM_000634	NA	Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.523C>T	2.37:g.219029412G>A	ENSP00000295683:p.Arg175Cys	NA	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	37	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109016	0.37242	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38401	1.14	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.179362	0.45361	D	0.000370	T	0.70945	0.3282	H	0.96861	3.895	0.53688	D	0.999976	D	0.89917	1.0	D	0.75020	0.985	T	0.80587	-0.1316	10	0.72032	D	0.01	.	13.0936	0.59178	0.0:0.1617:0.8382:0.0	.	175	P25024	CXCR1_HUMAN	C	175;119	ENSP00000295683:R175C	ENSP00000295683:R175C	R	-	1	0	CXCR1	218737657	0.998000	0.40836	0.144000	0.22314	0.162000	0.22319	2.998000	0.49465	2.432000	0.82394	0.655000	0.94253	CGC	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256773.2		-	ENST00000295683.2	Missense_Mutation	SNP	2 : 219029412 - 219029412 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	365	28
DAAM1	23002	broad.mit.edu	37	14	59820665	59820665	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:59820665T>C	ENST00000395125.1	+	19	2392	c.2369T>C	c.(2368-2370)gTg>gCg	p.V790A	DAAM1_ENST00000351081.1_Missense_Mutation_p.V790A|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000360909.3_Missense_Mutation_p.V780A	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	790	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGCAGAAGTGAAACCTAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	91			NA	NA	14		NA											NA				59820665		2203	4300	6503	SO:0001583	missense			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592	23002	23002			18142	protein-coding gene	gene with protein product		606626			NA	11779461, 18162551	Standard	NM_014992	NM_014992	NA	Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2369T>C	14.37:g.59820665T>C	ENSP00000378557:p.Val790Ala	NA	Q86U34|Q8N1Z8|Q8TB39	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	t	14.69	2.610615	0.46527	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.18810	2.19;2.19;2.19	6.03	6.03	0.97812	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050329	0.85682	D	0.000000	T	0.19406	0.0466	N	0.20304	0.555	0.51012	D	0.999904	B;B	0.29341	0.242;0.213	B;B	0.37091	0.162;0.241	T	0.09250	-1.0683	10	0.30854	T	0.27	.	16.5808	0.84714	0.0:0.0:0.0:1.0	.	780;790	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	A	780;790;790	ENSP00000354162:V780A;ENSP00000247170:V790A;ENSP00000378557:V790A	ENSP00000247170:V790A	V	+	2	0	DAAM1	58890418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.183000	0.72002	2.317000	0.78254	0.524000	0.50904	GTG	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276942.2		+	ENST00000395125.1	Missense_Mutation	SNP	14 : 59820665 - 59820665 C PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	260	55
DENND5A	23258	broad.mit.edu	37	11	9166560	9166560	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:9166560A>G	ENST00000530044.1	-	18	3121	c.3104T>C	c.(3103-3105)aTc>aCc	p.I1035T	DENND5A_ENST00000527700.1_Missense_Mutation_p.I378T|DENND5A_ENST00000328194.3_Missense_Mutation_p.I1035T			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1035	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTCCTGTGATCTCATTCCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	152	161			NA	NA	11		NA											NA				9166560		2201	4296	6497	SO:0001583	missense			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014	23258	23258		DENN/MADD domain containing	19344	protein-coding gene	gene with protein product			RAB6 interacting protein 1	RAB6IP1	NA	10470851	Standard	NM_015213	NM_015213	NA	Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000530044.1:c.3104T>C	11.37:g.9166560A>G	ENSP00000435866:p.Ile1035Thr	NA	Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	37	CCDS58119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.429149|4.429149	0.83776|0.83776	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000525784	T;T;T|.	0.64260|.	-0.09;-0.09;-0.09|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);|.	0.044753|.	0.85682|.	D|.	0.000000|.	T|T	0.52208|0.52208	0.1720|0.1720	N|N	0.21373|0.21373	0.66|0.66	0.80722|0.80722	D|D	1|1	P;B|.	0.48503|.	0.911;0.43|.	P;P|.	0.56216|.	0.794;0.697|.	T|T	0.49428|0.49428	-0.8941|-0.8941	10|5	0.42905|.	T|.	0.14|.	.|.	14.9507|14.9507	0.71071|0.71071	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1035;1035|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	T|P	1035;1035;378|83	ENSP00000328524:I1035T;ENSP00000435866:I1035T;ENSP00000432549:I378T|.	ENSP00000328524:I1035T|.	I|S	-|-	2|1	0|0	DENND5A|DENND5A	9123136|9123136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.325000|6.325000	0.72901|0.72901	2.122000|2.122000	0.65172|0.65172	0.528000|0.528000	0.53228|0.53228	ATC|TCA	DENND5A-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385912.1		-	ENST00000530044.1	Missense_Mutation	SNP	11 : 9166560 - 9166560 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	871	151
DLGAP2	9228	broad.mit.edu	37	8	1497636	1497636	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:1497636C>T	ENST00000421627.2	+	2	911	c.777C>T	c.(775-777)tcC>tcT	p.S259S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	338					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGGACCTGTCCCTCAAGACCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4223		0,1,2111	50	58	55		777	-8.7	0.1	8		55	8,8492		0,8,4242	no	coding-synonymous	DLGAP2	NM_004745.3		0,9,6353	TT,TC,CC	NA	0.0941,0.0237,0.0707		259/976	1497636	9,12715	2112	4250	6362	SO:0001819	synonymous_variant			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010	9228	9228			2906	protein-coding gene	gene with protein product		605438	discs, large (Drosophila) homolog-associated protein 2		NA	9286858, 10854099	Standard	NM_004745	NM_004745	NA	Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.777C>T	8.37:g.1497636C>T		NA	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	6.784	0.513698	0.12944	2.37E-4	9.41E-4	ENSG00000198010	ENST00000520901	.	.	.	5.3	-8.73	0.00841	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	-9.8398	12.3303	0.55035	0.6041:0.1817:0.2142:0.0	.	.	.	.	L	276	.	.	P	+	2	0	DLGAP2	1485043	0.000000	0.05858	0.113000	0.21522	0.613000	0.37349	-1.696000	0.01912	-1.352000	0.02194	-0.152000	0.13540	CCC	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374478.1		+	ENST00000421627.2	Silent	SNP	8 : 1497636 - 1497636 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	501	13
DSCAML1	57453	broad.mit.edu	37	11	117299205	117299205	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:117299205C>T	ENST00000321322.6	-	33	6182	c.6181G>A	c.(6181-6183)Gct>Act	p.A2061T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1791T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2001					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGAGGGGCAGCGCTGGGGGCG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	6	6			NA	NA	11		NA											NA				117299205		1667	3670	5337	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6181G>A	11.37:g.117299205C>T	ENSP00000315465:p.Ala2061Thr	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	3.405	-0.121412	0.06838	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60920	0.19;0.15	4.8	-1.8	0.07907	.	.	.	.	.	T	0.27900	0.0687	N	0.08118	0	0.22446	N	0.999099	B	0.28880	0.226	B	0.20184	0.028	T	0.16748	-1.0392	9	0.16896	T	0.51	.	6.3973	0.21618	0.0:0.3772:0.1962:0.4265	.	2001	Q8TD84	DSCL1_HUMAN	T	1791;2061;1768	ENSP00000434335:A1791T;ENSP00000315465:A2061T	ENSP00000315465:A2061T	A	-	1	0	DSCAML1	116804415	0.004000	0.15560	0.004000	0.12327	0.046000	0.14306	0.286000	0.18902	-0.373000	0.07979	0.313000	0.20887	GCT	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117299205 - 117299205 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	115	14
DYRK1A	1859	broad.mit.edu	37	21	38868512	38868512	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:38868512G>T	ENST00000339659.4	+	8	2634	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	DYRK1A_ENST00000455387.2_Missense_Mutation_p.K169N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.K397N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.K397N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.K397N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.K397N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.K397N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	NA	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCTTTGAGAAGTTGCCAGATG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(114;464 1602 31203 43785 45765)							NA				0													65	68	67			NA	NA	21		NA											NA				38868512		2203	4300	6503	SO:0001583	missense			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540	1859	1859			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH	NA	9284911	Standard	NM_001396	NM_130436	NA	Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000339659.4:c.1164G>T	21.37:g.38868512G>T	ENSP00000340373:p.Lys388Asn	NA	O60769|Q92582|Q92810|Q9UNM5	37	CCDS13653.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170311	0.78452	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	N	0.16037	0.36	0.80722	D	1	B;P;D;D;P	0.54772	0.447;0.704;0.968;0.96;0.704	B;B;P;P;B	0.57720	0.235;0.235;0.826;0.734;0.235	T	0.17167	-1.0378	10	0.72032	D	0.01	.	18.614	0.91296	0.0:0.0:1.0:0.0	.	397;397;397;388;397	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	397;388;397;397;397;397;169	ENSP00000342690:K397N;ENSP00000340373:K388N;ENSP00000319032:K397N;ENSP00000416089:K397N;ENSP00000381932:K397N;ENSP00000381929:K397N;ENSP00000407854:K169N	ENSP00000319032:K397N	K	+	3	2	DYRK1A	37790382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.700000	0.74619	2.446000	0.82766	0.655000	0.94253	AAG	DYRK1A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194801.2		+	ENST00000339659.4	Missense_Mutation	SNP	21 : 38868512 - 38868512 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	313	37
ELTD1	64123	broad.mit.edu	37	1	79387314	79387314	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:79387314G>T	ENST00000370742.3	-	9	1304	c.1241C>A	c.(1240-1242)tCc>tAc	p.S414Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	414	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGACCAGAGGACATCAAAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	138	141			NA	NA	1		NA											NA				79387314		1945	4143	6088	SO:0001583	missense			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618	64123	64123		-, GPCR / Class B : Orphans	20822	protein-coding gene	gene with protein product					NA	11050079	Standard	NM_022159	NM_022159	NA	Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1241C>A	1.37:g.79387314G>T	ENSP00000359778:p.Ser414Tyr	NA	B1AR71|Q5KU34	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620175	0.66787	.	.	ENSG00000162618	ENST00000370742	T	0.38887	1.11	5.32	5.32	0.75619	GPS domain (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.89030	3	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	T	0.71265	-0.4644	9	.	.	.	.	19.3656	0.94460	0.0:0.0:1.0:0.0	.	414	Q9HBW9	ELTD1_HUMAN	Y	414	ENSP00000359778:S414Y	.	S	-	2	0	ELTD1	79159902	1.000000	0.71417	0.989000	0.46669	0.372000	0.29890	9.568000	0.98166	2.637000	0.89404	0.585000	0.79938	TCC	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026859.1		-	ENST00000370742.3	Missense_Mutation	SNP	1 : 79387314 - 79387314 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	748	78
ENY2	56943	broad.mit.edu	37	8	110348356	110348356	+	Splice_Site	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:110348356G>A	ENST00000520147.1	+	2	63		c.e2-1		ENY2_ENST00000521688.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site|ENY2_ENST00000522407.1_Intron			Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	NA					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTGATGTCCAGGTTAGCAAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	95	96			NA	NA	8		NA											NA				110348356		1925	4125	6050	SO:0001630	splice_region_variant				CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533	56943	56943			24449	protein-coding gene	gene with protein product					NA	11438676	Standard	NM_020189	NM_020189	NA	Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000520147.1:c.-9-1G>A	8.37:g.110348356G>A		NA	B2RE52	37		.	.	.	.	.	.	.	.	.	.	G	17.48	3.400636	0.62177	.	.	ENSG00000120533	ENST00000521688	.	.	.	5.34	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2373	0.65934	0.0:0.15:0.85:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENY2	110417532	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.882000	0.28186	2.473000	0.83533	0.655000	0.94253	.	ENY2-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381006.1	Intron	+	ENST00000520147.1	Splice_Site	SNP	8 : 110348356 - 110348356 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	239	36
ERBB4	2066	broad.mit.edu	37	2	212578361	212578361	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:212578361A>T	ENST00000342788.4	-	8	1206	c.896T>A	c.(895-897)gTa>gAa	p.V299E	ERBB4_ENST00000402597.1_Missense_Mutation_p.V299E|ERBB4_ENST00000436443.1_Missense_Mutation_p.V299E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	299	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTGGAATCTACCACAAAGTT	0.328		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	79	80			NA	NA	2		NA											NA				212578361		2203	4300	6503	SO:0001583	missense			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.896T>A	2.37:g.212578361A>T	ENSP00000342235:p.Val299Glu	NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.779881|4.779881	0.90195|0.90195	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76328|.	0.3972|.	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.983;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.967;0.999;0.999;1.0|.	T|.	0.77389|.	-0.2606|.	10|.	0.87932|.	D|.	0|.	.|.	15.7982|15.7982	0.78428|0.78428	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	299;299;158;299;299|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	E|K	299|299	ENSP00000342235:V299E;ENSP00000403204:V299E;ENSP00000385565:V299E|.	ENSP00000342235:V299E|.	V|X	-|-	2|1	0|0	ERBB4|ERBB4	212286606|212286606	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.987000|0.987000	0.75469|0.75469	9.339000|9.339000	0.96797|0.96797	2.132000|2.132000	0.65825|0.65825	0.533000|0.533000	0.62120|0.62120	GTA|TAG	ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Missense_Mutation	SNP	2 : 212578361 - 212578361 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	305	49
EXD2	55218	broad.mit.edu	37	14	69704529	69704529	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:69704529C>T	ENST00000409018.3	+	8	1658	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	EXD2_ENST00000312994.5_Silent_p.L510L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L385L|EXD2_ENST00000409675.1_Silent_p.L385L|EXD2_ENST00000409242.1_Silent_p.L385L|EXD2_ENST00000409014.1_Silent_p.L385L|EXD2_ENST00000409949.1_Silent_p.L385L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	385					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGGCCCTGCTCAACGCGGAGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	22	22			NA	NA	14		NA											NA				69704529		2203	4300	6503	SO:0001819	synonymous_variant			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177	NA	55218			20217	protein-coding gene	gene with protein product			chromosome 14 open reading frame 114, exonuclease 3'-5' domain-like 2	C14orf114, EXDL2	NA		Standard		NM_018199	NA	Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1530C>T	14.37:g.69704529C>T		NA	Q8N3D3	37	CCDS53902.1																																																																																			EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335504.1		+	ENST00000409018.3	Silent	SNP	14 : 69704529 - 69704529 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	188	13
FABP12	646486	broad.mit.edu	37	8	82439272	82439272	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:82439272C>T	ENST00000360464.4	-	3	393	c.331G>A	c.(331-333)Gat>Aat	p.D111N	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	111							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						ATTTTCCCATCCACCAGCTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	84	86			NA	NA	8		NA											NA				82439272		1917	4140	6057	SO:0001583	missense				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416	646486	646486		Fatty acid binding protein family	34524	protein-coding gene	gene with protein product					NA	18786628	Standard	NM_001105281	NM_001105281	NA	Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.331G>A	8.37:g.82439272C>T	ENSP00000353650:p.Asp111Asn	NA	B7SUN0	37	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385251	0.61956	.	.	ENSG00000197416	ENST00000360464	T	0.08282	3.11	5.18	5.18	0.71444	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.154736	0.56097	D	0.000026	T	0.11495	0.0280	L	0.52823	1.66	0.50467	D	0.999878	B	0.10296	0.003	B	0.17979	0.02	T	0.02417	-1.1162	10	0.54805	T	0.06	.	14.592	0.68373	0.1464:0.8536:0.0:0.0	.	111	A6NFH5	FBP12_HUMAN	N	111	ENSP00000353650:D111N	ENSP00000353650:D111N	D	-	1	0	FABP12	82601827	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.114000	0.64648	2.679000	0.91253	0.655000	0.94253	GAT	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379720.1		-	ENST00000360464.4	Missense_Mutation	SNP	8 : 82439272 - 82439272 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	137	10
GABRA5	2558	broad.mit.edu	37	15	27182336	27182336	+	Silent	SNP	G	G	A	rs149156018	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:27182336G>A	ENST00000335625.5	+	8	1473	c.585G>A	c.(583-585)gcG>gcA	p.A195A	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.A195A|GABRA5_ENST00000355395.5_Silent_p.A195A	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	195					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATACAGATGCGTACCCTAATT	0.493		NA											G	10	0.0046	0.02	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0046	0.9905	LOWCOV,EXOME	NA	NA	0.0118	SNP								NA				0								G	,	45,3911		0,45,1933	154	149	151		585,585	-7.3	0.9	15	dbSNP_134	151	0,8336		0,0,4168	no	coding-synonymous,coding-synonymous	GABRA5	NM_000810.3,NM_001165037.1	,	0,45,6101	AA,AG,GG	NA	0.0,1.1375,0.3661	,	195/463,195/463	27182336	45,12247	1978	4168	6146	SO:0001819	synonymous_variant				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297	2558	2558		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4079	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 5	137142			NA	1321750	Standard		NM_000810	NA	Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.585G>A	15.37:g.27182336G>A		NA	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	37	CCDS45194.1																																																																																			GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415234.1		+	ENST00000335625.5	Silent	SNP	15 : 27182336 - 27182336 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	506	91
GJC3	349149	broad.mit.edu	37	7	99527179	99527179	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:99527179C>T	ENST00000312891.2	-	1	64	c.65G>A	c.(64-66)cGc>cAc	p.R22H	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	22						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAGCAAGAGGCGCCCCACGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4302		0,0,2151	13	15	14		65	0.8	0.9	7		14	5,8459		0,5,4227	yes	missense	GJC3	NM_181538.2	29	0,5,6378	TT,TC,CC	NA	0.0591,0.0,0.0392	benign	22/280	99527179	5,12761	2151	4232	6383	SO:0001583	missense			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402	349149	349149		Ion channels / Gap junction proteins (connexins)	17495	protein-coding gene	gene with protein product	connexin 30.2	611925	gap junction protein, epsilon 1, 29kDa	GJE1	NA		Standard	NM_181538	NM_181538	NA	Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.65G>A	7.37:g.99527179C>T	ENSP00000325775:p.Arg22His	NA	A4D296|Q86XI9	37	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179225	0.38511	0.0	5.91E-4	ENSG00000176402	ENST00000312891	D	0.99252	-5.63	4.63	0.835	0.18886	Connexin, N-terminal (1);	0.744172	0.11452	N	0.562693	D	0.97648	0.9229	M	0.64080	1.96	0.28916	N	0.892435	B	0.26081	0.141	B	0.20184	0.028	D	0.96749	0.9552	10	0.66056	D	0.02	.	6.7104	0.23274	0.0:0.5183:0.0:0.4817	.	22	Q8NFK1	CXG3_HUMAN	H	22	ENSP00000325775:R22H	ENSP00000325775:R22H	R	-	2	0	GJC3	99365115	1.000000	0.71417	0.885000	0.34714	0.163000	0.22366	2.491000	0.45303	0.298000	0.22638	0.655000	0.94253	CGC	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345052.1		-	ENST00000312891.2	Missense_Mutation	SNP	7 : 99527179 - 99527179 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	258	16
GPRASP1	9737	broad.mit.edu	37	X	101910080	101910080	+	Silent	SNP	C	C	T	rs144058687	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:101910080C>T	ENST00000361600.5	+	5	2040	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Silent_p.D413D|GPRASP1_ENST00000444152.1_Silent_p.D413D|GPRASP1_ENST00000415986.1_Silent_p.D413D	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	413						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGCTACAGACGAGTCCAGCA	0.542		NA											C	1	6e-04	0.0027	NA	1659	NA	0.9999	,	,	NA	1e-04	NA	NA	NA	5e-04	0.7426	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0									,,,,	3,3832		0,2,1,1630,570	64	65	65		1239,1239,1239,,1239	-4.9	0	X	dbSNP_134	65	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GPRASP1,ARMCX5-GPRASP2	NM_001099410.1,NM_001099411.1,NM_001184727.1,NM_001199818.1,NM_014710.4	,,,,	0,2,1,4058,2442	TT,TC,T,CC,C	NA	0.0,0.0782,0.0284	,,,,	413/1396,413/1396,413/1396,,413/1396	101910080	3,10560	2203	4300	6503	SO:0001819	synonymous_variant			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932	9737	9737		Armadillo repeat containing	24834	protein-coding gene	gene with protein product		300417			NA	9455477, 15086532, 16221301	Standard	NM_014710	NM_014710	NA	Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1239C>T	X.37:g.101910080C>T		NA	O43168|Q96LA1	37	CCDS35352.1																																																																																			GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057634.2		+	ENST00000361600.5	Silent	SNP	X : 101910080 - 101910080 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	256	112
HSP90AA1	3320	broad.mit.edu	37	14	102552342	102552342	+	Silent	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:102552342A>T	ENST00000334701.7	-	4	929	c.648T>A	c.(646-648)acT>acA	p.T216T	HSP90AA1_ENST00000216281.8_Silent_p.T94T|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	94					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCCAATTCCAGTATCCACAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	14		NA											NA				102552342		2203	4300	6503	SO:0001819	synonymous_variant			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824	3320	3320		Heat shock proteins / HSPC	5253	protein-coding gene	gene with protein product		140571	heat shock 90kD protein 1, alpha, heat shock 90kDa protein 1, alpha	HSPC1, HSPCA	NA	2527334, 16269234	Standard	NM_005348	NM_001017963	NA	Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000334701.7:c.648T>A	14.37:g.102552342A>T		NA	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	37	CCDS32160.1																																																																																			HSP90AA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414953.1		-	ENST00000334701.7	Silent	SNP	14 : 102552342 - 102552342 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	571	77
KCNJ12	3768	broad.mit.edu	37	17	21318768	21318768	+	Silent	SNP	G	G	A	rs139060766		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:21318768G>A	ENST00000583088.1	+	3	1009	c.114G>A	c.(112-114)acG>acA	p.T38T	KCNJ12_ENST00000331718.5_Silent_p.T38T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGGTGCACACGCGGCGCAGGT	0.622		NA								Prostate(3;0.18)			G	3	0.0014	0.002	NA	2184	0.0035	0.9995	,	,	NA	6e-04	NA	NA	NA	0.0016	0.9283	EXOME	NA	NA	0.0027	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	109	84	93		114	-10.7	0.4	17	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		38/434	21318768	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.114G>A	17.37:g.21318768G>A		NA		37	CCDS11219.1																																																																																			KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Silent	SNP	17 : 21318768 - 21318768 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	349	25
KIF17	57576	broad.mit.edu	37	1	21031222	21031222	+	Missense_Mutation	SNP	G	G	A	rs150395335		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:21031222G>A	ENST00000247986.2	-	5	1151	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KIF17_ENST00000400463.3_Missense_Mutation_p.R281C|KIF17_ENST00000375044.1_Missense_Mutation_p.R181C			Q9P2E2	KIF17_HUMAN	kinesin family member 17	281					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTTACAGCGCCCGTCCACC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	78	79			NA	NA	1		NA											NA				21031222		2203	4300	6503	SO:0001583	missense			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245	57576	57576		Kinesins	19167	protein-coding gene	gene with protein product	kinesin-like protein KIF17, KIF3-related motor protein, KIF17 variant protein	605037			NA	10846156	Standard	NM_020816	XR_241202	NA	Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.841C>T	1.37:g.21031222G>A	ENSP00000247986:p.Arg281Cys	NA	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735323	0.69189	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.73469	-0.75;-0.75;-0.75	5.11	4.13	0.48395	Kinesin, motor domain (3);	0.000000	0.33161	U	0.005212	D	0.83308	0.5226	M	0.71871	2.18	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.84525	0.0630	10	0.87932	D	0	.	11.0585	0.47933	0.0:0.0:0.67:0.33	.	281;281	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	C	181;281;281	ENSP00000364184:R181C;ENSP00000383311:R281C;ENSP00000247986:R281C	ENSP00000247986:R281C	R	-	1	0	KIF17	20903809	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.315000	0.51951	2.554000	0.86153	0.462000	0.41574	CGC	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276995.1		-	ENST00000247986.2	Missense_Mutation	SNP	1 : 21031222 - 21031222 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	763	82
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109	98	102			NA	NA	12		NA											NA				25380275		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.183A>C	12.37:g.25380275T>G	ENSP00000308495:p.Gln61His	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380275 - 25380275 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	471	123
KRT84	3890	broad.mit.edu	37	12	52779007	52779007	+	Silent	SNP	G	G	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:52779007G>C	ENST00000257951.3	-	1	429	c.363C>G	c.(361-363)ggC>ggG	p.G121G	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	121	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAACCAAAGCCAGGGCCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	165	167			NA	NA	12		NA											NA				52779007		2203	4300	6503	SO:0001819	synonymous_variant			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849	3890	3890		-, Intermediate filaments type II, keratins (basic)	6461	protein-coding gene	gene with protein product	hard keratin type II 4	602766	keratin, hair, basic, 4	KRTHB4	NA	2431943, 16831889	Standard	NM_033045	NM_033045	NA	Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.363C>G	12.37:g.52779007G>C		NA	B2RA43|Q6ISB0|Q701L6	37	CCDS8825.1																																																																																			KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405187.1		-	ENST00000257951.3	Silent	SNP	12 : 52779007 - 52779007 C PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	1369	105
LGR6	59352	broad.mit.edu	37	1	202273709	202273709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:202273709C>T	ENST00000367278.3	+	11	1110	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.R202W|LGR6_ENST00000255432.7_Missense_Mutation_p.R289W	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	341						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CGCAGGCATCCGGCTGCTCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	49	48			NA	NA	1		NA											NA				202273709		2203	4300	6503	SO:0001583	missense			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067	59352	59352		GPCR / Class A : Orphans	19719	protein-coding gene	gene with protein product		606653	leucine-rich repeat-containing G protein-coupled receptor 6		NA	10935549	Standard	NM_021636	XM_005245404	NA	Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1021C>T	1.37:g.202273709C>T	ENSP00000356247:p.Arg341Trp	NA	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	37	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486753	0.84854	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	T;T;T;T	0.59502	0.86;0.86;0.26;0.86	5.22	4.29	0.51040	.	0.382828	0.27052	N	0.021162	T	0.68723	0.3032	M	0.65677	2.01	0.32304	N	0.564591	D;D;D	0.76494	0.999;0.989;0.996	P;P;P	0.58970	0.799;0.764;0.849	T	0.77247	-0.2658	10	0.72032	D	0.01	.	11.9806	0.53117	0.1802:0.8198:0.0:0.0	.	202;289;341	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	W	341;289;195;195;202	ENSP00000356247:R341W;ENSP00000255432:R289W;ENSP00000402284:R195W;ENSP00000387869:R202W	ENSP00000255432:R289W	R	+	1	2	LGR6	200540332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.719000	0.47244	1.129000	0.42072	0.655000	0.94253	CGG	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099143.1		+	ENST00000367278.3	Missense_Mutation	SNP	1 : 202273709 - 202273709 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	420	29
LHFPL2	10184	broad.mit.edu	37	5	77805805	77805805	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:77805805G>A	ENST00000515007.2	-	2	542	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	LHFPL2_ENST00000380345.2_Missense_Mutation_p.R78W			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	78						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AGCGTGTCCCGCTGGAAGTGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	21			NA	NA	5		NA											NA				77805805		2203	4297	6500	SO:0001583	missense			D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685	10184	10184			6588	protein-coding gene	gene with protein product		609718			NA	10329012	Standard	NM_005779	NM_005779	NA	Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.232C>T	5.37:g.77805805G>A	ENSP00000425906:p.Arg78Trp	NA	B2RMQ6|Q7Z5P0|Q92605	37	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889280	0.72524	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.72725	-0.68;-0.68	5.52	3.7	0.42460	.	0.175378	0.49305	D	0.000158	T	0.63780	0.2540	L	0.47716	1.5	0.45390	D	0.998379	B	0.11235	0.004	B	0.10450	0.005	T	0.57631	-0.7778	10	0.37606	T	0.19	-26.9083	13.8039	0.63218	0.0:0.0:0.4853:0.5147	.	78	Q6ZUX7	LHPL2_HUMAN	W	78	ENSP00000369702:R78W;ENSP00000425906:R78W	ENSP00000369702:R78W	R	-	1	2	LHFPL2	77841561	0.002000	0.14202	0.906000	0.35671	0.907000	0.53573	0.772000	0.26647	0.675000	0.31264	-0.122000	0.15005	CGG	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369098.2		-	ENST00000515007.2	Missense_Mutation	SNP	5 : 77805805 - 77805805 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	178	30
LRRCC1	85444	broad.mit.edu	37	8	86038981	86038981	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:86038981G>A	ENST00000414626.2	+	8	2159	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E444K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	444					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TGAGCAAGCCGAAAATAAACT	0.373		NA											G	3	0.0014	0.01	NA	2184	NA	0.9993	,	,	NA	3e-04	NA	NA	NA	0.0017	0.8587	EXOME	NA	NA	0.0013	SNP								NA				0								G	LYS/GLU	22,3698		0,22,1838	78	76	76		1330	5.6	1	8		76	2,8204		0,2,4101	yes	missense	LRRCC1	NM_033402.4	56	0,24,5939	AA,AG,GG	NA	0.0244,0.5914,0.2012	possibly-damaging	444/1033	86038981	24,11902	1860	4103	5963	SO:0001583	missense			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739	85444	85444			29373	protein-coding gene	gene with protein product	centrosomal leucine-rich repeat and coiled-coil containing protein, variable number of flagella 1 homolog (Chlamydomonas)		leucine rich repeat and coiled-coil domain containing 1		NA	11214970, 18728398	Standard	NM_033402	NM_033402	NA	Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000414626.2:c.1270G>A	8.37:g.86038981G>A	ENSP00000394695:p.Glu424Lys	NA	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	26.0	4.693391	0.88735	0.005914	2.44E-4	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32272	1.46;1.47	5.56	5.56	0.83823	.	0.000000	0.36893	N	0.002360	T	0.41026	0.1141	M	0.66939	2.045	0.43003	D	0.994525	D;D;D;D	0.89917	0.999;0.999;1.0;0.99	D;D;D;P	0.65010	0.915;0.931;0.915;0.596	T	0.39742	-0.9599	10	0.05721	T	0.95	-23.8999	19.1212	0.93364	0.0:0.0:1.0:0.0	.	351;424;351;444	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	K	444;424	ENSP00000353538:E444K;ENSP00000394695:E424K	ENSP00000353538:E444K	E	+	1	0	LRRCC1	86226233	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.892000	0.69790	2.632000	0.89209	0.655000	0.94253	GAA	LRRCC1-006	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000380272.1		+	ENST00000414626.2	Missense_Mutation	SNP	8 : 86038981 - 86038981 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	437	74
MAP1LC3A	84557	broad.mit.edu	37	20	33147601	33147604	+	Frame_Shift_Del	DEL	GTGA	GTGA	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	GTGA	GTGA	-	-	GTGA	GTGA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:33147601_33147604delGTGA	ENST00000360668.3	+	4	1026_1029	c.265_268delGTGA	c.(265-270)gtgagtfs	p.VS91fs	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Frame_Shift_Del_p.VS91fs|MAP1LC3A_ENST00000374837.3_Frame_Shift_Del_p.VS95fs			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	91					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GCACAGCATGGTGAGTGTGTCCAC	0.618		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460	84557	84557			6838	protein-coding gene	gene with protein product		601242			NA	8833088, 17580304	Standard	NM_181509	NM_032514	NA	Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.265_268delGTGA	20.37:g.33147601_33147604delGTGA	ENSP00000353886:p.Val91fs	NA	E1P5P4|E1P5P5|Q9BXW5	37	CCDS13238.1																																																																																			MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078801.2		+	ENST00000360668.3	Frame_Shift_Del	DEL	20 : 33147601 - 33147604 - PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	779	210
MAPK13	5603	broad.mit.edu	37	6	36098379	36098379	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:36098379A>G	ENST00000211287.4	+	1	282	c.20A>G	c.(19-21)aAg>aGg	p.K7R	MAPK13_ENST00000373766.5_Missense_Mutation_p.K7R|MAPK13_ENST00000373761.6_Missense_Mutation_p.K7R	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	7					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						ATCCGGAAAAAGGGCTTCTAC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	27	27			NA	NA	6		NA											NA				36098379		2199	4298	6497	SO:0001583	missense			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	5603	5603	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6875	protein-coding gene	gene with protein product		602899		PRKM13	NA	9295308, 9218798	Standard		NM_002754	NA	Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.20A>G	6.37:g.36098379A>G	ENSP00000211287:p.Lys7Arg	NA	O14739|O15124|Q6FI46|Q9UNU0	37	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	A	6.131	0.392389	0.11638	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766	T;T;T	0.70869	-0.34;-0.52;-0.18	4.3	-1.34	0.09143	Protein kinase-like domain (1);	0.667620	0.13434	N	0.388180	T	0.26268	0.0641	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29366	-1.0014	10	0.26408	T	0.33	-6.0464	10.1854	0.42995	0.3399:0.0:0.6601:0.0	.	7	O15264	MK13_HUMAN	R	7	ENSP00000362866:K7R;ENSP00000211287:K7R;ENSP00000362871:K7R	ENSP00000211287:K7R	K	+	2	0	MAPK13	36206357	0.996000	0.38824	0.761000	0.31378	0.527000	0.34593	0.909000	0.28558	-0.146000	0.11274	-0.415000	0.06103	AAG	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040328.1		+	ENST00000211287.4	Missense_Mutation	SNP	6 : 36098379 - 36098379 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	131	6
MCM2	4171	broad.mit.edu	37	3	127325137	127325137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:127325137C>T	ENST00000265056.7	+	5	1094	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	284					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CATCCATGTCCGCATCTCCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	130	140			NA	NA	3		NA											NA				127325137		2203	4300	6503	SO:0001583	missense			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111	4171	4171			6944	protein-coding gene	gene with protein product	mitotin	116945	minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin), MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)	CCNL1, CDCL1	NA	1710453, 8258304	Standard		NM_004526	NA	Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.850C>T	3.37:g.127325137C>T	ENSP00000265056:p.Arg284Cys	NA	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552420	0.65311	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.15017	2.46	5.1	5.1	0.69264	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.70741	-0.4789	10	0.87932	D	0	-27.6015	18.5426	0.91035	0.0:1.0:0.0:0.0	.	265;154;284	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	C	284;188;265	ENSP00000265056:R284C	ENSP00000265056:R284C	R	+	1	0	MCM2	128807827	1.000000	0.71417	0.965000	0.40720	0.262000	0.26303	5.925000	0.70062	2.363000	0.80096	0.591000	0.81541	CGC	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356612.1		+	ENST00000265056.7	Missense_Mutation	SNP	3 : 127325137 - 127325137 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	1342	371
MIB2	142678	broad.mit.edu	37	1	1565062	1565062	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:1565062C>T	ENST00000378712.1	+	17	2555	c.2230C>T	c.(2230-2232)Cgt>Tgt	p.R744C	MIB2_ENST00000520777.1_Silent_p.V980V|MIB2_ENST00000504599.1_Silent_p.V883V|MIB2_ENST00000518681.1_Silent_p.V919V|MIB2_ENST00000505820.2_Silent_p.V984V|MIB2_ENST00000357210.4_Silent_p.V927V|MIB2_ENST00000378708.1_Silent_p.V833V|MIB2_ENST00000355826.5_Silent_p.V970V|MIB2_ENST00000360522.4_Silent_p.V892V|MIB2_ENST00000378710.3_Silent_p.V891V	NM_001170689.1	NP_001164160.1	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	865					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCAGGTGGTCGTCAGCAAGA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	43	40			NA	NA	1		NA											NA				1565062		2099	4214	6313	SO:0001583	missense			AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530	142678	142678		Zinc fingers, ZZ-type, Ankyrin repeat domain containing	30577	protein-coding gene	gene with protein product		611141	zinc finger, ZZ type with ankyrin repeat domain 1, mindbomb homolog 2 (Drosophila)	ZZANK1	NA	12761501	Standard	NM_080875	NM_080875	NA	Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000378712.1:c.2230C>T	1.37:g.1565062C>T	ENSP00000367984:p.Arg744Cys	NA	A2AGM5|A2AGM6|B3KV93|B3KVF4|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	37	CCDS53264.1	.	.	.	.	.	.	.	.	.	.	c	12.92	2.083742	0.36758	.	.	ENSG00000197530	ENST00000378712;ENST00000514234	T	0.68624	-0.34	3.31	1.06	0.20224	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	B	0.33904	0.431	B	0.26969	0.075	T	0.55673	-0.8104	8	0.66056	D	0.02	-3.8927	10.1675	0.42888	0.4171:0.5829:0.0:0.0	.	744	B3KXY1	.	C	744;743	ENSP00000367984:R744C	ENSP00000367984:R744C	R	+	1	0	MIB2	1554925	0.438000	0.25602	0.866000	0.34008	0.451000	0.32288	0.089000	0.15002	0.662000	0.31006	0.450000	0.29827	CGT	MIB2-006	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158407.1		+	ENST00000378712.1	Missense_Mutation	SNP	1 : 1565062 - 1565062 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	208	41
MYH4	4622	broad.mit.edu	37	17	10358056	10358056	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:10358056A>G	ENST00000255381.2	-	22	2617	c.2507T>C	c.(2506-2508)cTg>cCg	p.L836P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	836					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGAAATACAGCTTCATCCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	131	136			NA	NA	17		NA											NA				10358056		2203	4300	6503	SO:0001583	missense				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2507T>C	17.37:g.10358056A>G	ENSP00000255381:p.Leu836Pro	NA		37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966711	0.74131	.	.	ENSG00000141048	ENST00000255381	D	0.93426	-3.22	5.17	5.17	0.71159	.	0.000000	0.30101	U	0.010414	D	0.98166	0.9394	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99758	1.1020	10	0.87932	D	0	.	15.3039	0.73976	1.0:0.0:0.0:0.0	.	836	Q9Y623	MYH4_HUMAN	P	836	ENSP00000255381:L836P	ENSP00000255381:L836P	L	-	2	0	MYH4	10298781	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.182000	0.94881	2.075000	0.62263	0.383000	0.25322	CTG	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1		-	ENST00000255381.2	Missense_Mutation	SNP	17 : 10358056 - 10358056 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	613	117
NACA	4666	broad.mit.edu	37	12	57110765	57110765	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:57110765G>C	ENST00000550952.1	-	5	1903				NACA_ENST00000548563.1_Intron|NACA_ENST00000454682.1_Missense_Mutation_p.P1517A|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron			Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	NA					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGACCTCTTTG	0.587		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													46	52	50			NA	NA	12		NA											NA				57110765		1559	3555	5114	SO:0001627	intron_variant			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	4666	4666			7629	protein-coding gene	gene with protein product		601234	nascent-polypeptide-associated complex alpha polypeptide		NA	8047162	Standard	NM_005594	NM_001113202	NA	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000550952.1:c.1865-775C>G	12.37:g.57110765G>C		NA	Q3KQV4|Q53A18|Q53G46	37	CCDS44925.2	.	.	.	.	.	.	.	.	.	.	G	9.906	1.208201	0.22205	.	.	ENSG00000196531	ENST00000454682	T	0.55234	0.53	2.96	-0.127	0.13510	.	.	.	.	.	T	0.28699	0.0711	.	.	.	0.09310	N	1	B	0.22080	0.064	B	0.18263	0.021	T	0.16041	-1.0416	7	.	.	.	.	1.6713	0.02812	0.114:0.1778:0.3461:0.3622	.	1517	E9PAV3	.	A	1517	ENSP00000403817:P1517A	.	P	-	1	0	NACA	55397032	0.005000	0.15991	0.000000	0.03702	0.236000	0.25371	0.396000	0.20867	-0.025000	0.13918	0.298000	0.19748	CCA	NACA-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407275.1		-	ENST00000550952.1	Intron	SNP	12 : 57110765 - 57110765 C PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	597	36
NCOA2	10499	broad.mit.edu	37	8	71071800	71071803	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	AGTT	AGTT	-	-	AGTT	AGTT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:71071800_71071803delAGTT	ENST00000452400.2	-	10	1242_1245	c.1061_1064delAACT	c.(1060-1065)aaactcfs	p.KL354fs		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	354					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGAACGGATGAGTTTGCTCTTCGT	0.402		NA	T	RUNXBP2, HEY1	AML, Chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396	10499	10499		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7669	protein-coding gene	gene with protein product		601993			NA	9111344, 8670870	Standard		XM_005251128	NA	Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1061_1064delAACT	8.37:g.71071800_71071803delAGTT	ENSP00000399968:p.Lys354fs	NA	Q14CD2	37	CCDS47872.1																																																																																			NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379696.1		-	ENST00000452400.2	Frame_Shift_Del	DEL	8 : 71071800 - 71071803 - PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	914	191
NFAM1	150372	broad.mit.edu	37	22	42781196	42781196	+	Missense_Mutation	SNP	C	C	T	rs145224229		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42781196C>T	ENST00000329021.5	-	6	821	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	262					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						AGGTTAAGTTCGCCATCATCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4406		0,0,2203	135	140	138		784	2.1	0	22	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	missense	NFAM1	NM_145912.5	56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	262/271	42781196	1,13005	2203	4300	6503	SO:0001583	missense			BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568	150372	150372			29872	protein-coding gene	gene with protein product		608740			NA	12615919	Standard	NM_145912	NM_145912	NA	Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.784G>A	22.37:g.42781196C>T	ENSP00000333680:p.Glu262Lys	NA	B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	37	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297461	0.60086	0.0	1.16E-4	ENSG00000235568	ENST00000329021	T	0.40476	1.03	4.22	2.1	0.27182	.	0.200535	0.22657	U	0.057244	T	0.33323	0.0859	L	0.56769	1.78	0.09310	N	1	B	0.31989	0.35	B	0.23419	0.046	T	0.29058	-1.0024	10	0.87932	D	0	-8.6668	7.32	0.26521	0.0:0.785:0.0:0.215	.	262	Q8NET5	NFAM1_HUMAN	K	262	ENSP00000333680:E262K	ENSP00000333680:E262K	E	-	1	0	NFAM1	41111140	0.194000	0.23325	0.004000	0.12327	0.002000	0.02628	1.355000	0.34068	0.504000	0.28082	-0.254000	0.11334	GAA	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320541.1		-	ENST00000329021.5	Missense_Mutation	SNP	22 : 42781196 - 42781196 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	1848	83
NPY5R	4889	broad.mit.edu	37	4	164272416	164272416	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:164272416C>A	ENST00000515560.1	+	4	2513	c.991C>A	c.(991-993)Cca>Aca	p.P331T	NPY5R_ENST00000338566.3_Missense_Mutation_p.P331T|NPY5R_ENST00000506953.1_Missense_Mutation_p.P331T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	331					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAAGTTCATACCAGGGGTCCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(139;1287 1774 9781 19750 25599)							NA				0													70	72	71			NA	NA	4		NA											NA				164272416		2203	4300	6503	SO:0001583	missense			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129	4889	4889		GPCR / Class A : Neuropeptide receptors : Y	7958	protein-coding gene	gene with protein product		602001			NA	8700207, 9417917	Standard	NM_006174	NM_006174	NA	Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.991C>A	4.37:g.164272416C>A	ENSP00000423917:p.Pro331Thr	NA	Q6GTR7|Q92916	37	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321968	0.60634	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.71222	-0.55;-0.55;-0.55	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001140	T	0.81522	0.4840	M	0.68952	2.095	0.48696	D	0.999694	D	0.89917	1.0	D	0.81914	0.995	T	0.77571	-0.2538	10	0.18276	T	0.48	.	18.061	0.89377	0.0:1.0:0.0:0.0	.	331	Q15761	NPY5R_HUMAN	T	331	ENSP00000339377:P331T;ENSP00000423917:P331T;ENSP00000423474:P331T	ENSP00000339377:P331T	P	+	1	0	NPY5R	164491866	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	3.986000	0.56937	2.433000	0.82419	0.467000	0.42956	CCA	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364633.1		+	ENST00000515560.1	Missense_Mutation	SNP	4 : 164272416 - 164272416 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	371	88
ODF1	4956	broad.mit.edu	37	8	103564103	103564103	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:103564103C>A	ENST00000285402.3	+	1	304	c.148C>A	c.(148-150)Cac>Aac	p.H50N		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	50	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTGACTTGCACCCATATCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													401	312	342			NA	NA	8		NA											NA				103564103		2203	4300	6503	SO:0001583	missense			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087	4956	4956		Heat shock proteins / HSPB	8113	protein-coding gene	gene with protein product	cancer/testis antigen 133	182878	outer dense fibre of sperm tails 1		NA	8305202	Standard		NM_024410	NA	Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.148C>A	8.37:g.103564103C>A	ENSP00000285402:p.His50Asn	NA	Q3SX72	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275978	0.80580	.	.	ENSG00000155087	ENST00000285402	T	0.39406	1.08	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000022	T	0.44052	0.1275	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.53464	-0.8435	10	0.87932	D	0	-42.5575	15.6153	0.76760	0.0:1.0:0.0:0.0	.	50	Q14990	ODFP1_HUMAN	N	50	ENSP00000285402:H50N	ENSP00000285402:H50N	H	+	1	0	ODF1	103633279	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.754000	0.55189	2.750000	0.94351	0.655000	0.94253	CAC	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379884.1		+	ENST00000285402.3	Missense_Mutation	SNP	8 : 103564103 - 103564103 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	2012	140
OR10G9	219870	broad.mit.edu	37	11	123894473	123894473	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:123894473G>A	ENST00000375024.1	+	1	754	c.754G>A	c.(754-756)Gtt>Att	p.V252I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGCTTTTTTGTTCCCTGTGT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	145	151			NA	NA	11		NA											NA				123894473		2201	4299	6500	SO:0001583	missense			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981	219870	219870		GPCR / Class A : Olfactory receptors	15129	protein-coding gene	gene with protein product				OR10G10P	NA		Standard	NM_001001953	NM_001001953	NA	Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.754G>A	11.37:g.123894473G>A	ENSP00000364164:p.Val252Ile	NA		37	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.619019	0.00828	.	.	ENSG00000236981	ENST00000375024	T	0.37915	1.17	3.35	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.666360	0.12267	N	0.484157	T	0.23611	0.0571	L	0.43152	1.355	0.20307	N	0.999916	B	0.06786	0.001	B	0.15052	0.012	T	0.36187	-0.9758	10	0.02654	T	1	.	7.4128	0.27027	0.1005:0.1691:0.7304:0.0	.	252	Q8NGN4	O10G9_HUMAN	I	252	ENSP00000364164:V252I	ENSP00000364164:V252I	V	+	1	0	OR10G9	123399683	0.000000	0.05858	0.733000	0.30861	0.764000	0.43329	0.040000	0.13905	0.234000	0.21139	-1.247000	0.01520	GTT	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387269.1		+	ENST00000375024.1	Missense_Mutation	SNP	11 : 123894473 - 123894473 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	795	137
OR4S1	256148	broad.mit.edu	37	11	48328426	48328426	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:48328426A>G	ENST00000319988.1	+	1	652	c.652A>G	c.(652-654)Atc>Gtc	p.I218V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCCTATGTTATCATCTTACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	158	166			NA	NA	11		NA											NA				48328426		2201	4298	6499	SO:0001583	missense			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555	256148	256148		GPCR / Class A : Olfactory receptors	14705	protein-coding gene	gene with protein product					NA		Standard	NM_001004725	NM_001004725	NA	Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.652A>G	11.37:g.48328426A>G	ENSP00000321447:p.Ile218Val	NA	Q6IFB4	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.812081	0.00073	.	.	ENSG00000176555	ENST00000319988	T	0.00076	8.76	5.02	-0.0613	0.13785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00652	-1.29	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.14699	-1.0463	9	0.02654	T	1	.	8.1535	0.31154	0.4876:0.0:0.5124:0.0	.	218	Q8NGB4	OR4S1_HUMAN	V	218	ENSP00000321447:I218V	ENSP00000321447:I218V	I	+	1	0	OR4S1	48285002	0.000000	0.05858	0.132000	0.22025	0.008000	0.06430	-0.029000	0.12329	0.061000	0.16311	-0.177000	0.13119	ATC	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390556.1		+	ENST00000319988.1	Missense_Mutation	SNP	11 : 48328426 - 48328426 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	792	82
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:55703122A>T	ENST00000301532.3	-	1	754	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	76			NA	NA	11		NA											NA				55703122		2201	4296	6497	SO:0001583	missense			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825	10798	10798		GPCR / Class A : Olfactory receptors	8347	protein-coding gene	gene with protein product		608496			NA	9017400, 9787077	Standard	NM_006637	NM_006637	NA	Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.755T>A	11.37:g.55703122A>T	ENSP00000301532:p.Ile252Asn	NA	Q6IEU4	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867312	0.32977	.	.	ENSG00000167825	ENST00000301532	T	0.00211	8.54	5.16	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000192	T	0.00552	0.0018	M	0.87456	2.885	0.25640	N	0.986215	D	0.76494	0.999	D	0.87578	0.998	T	0.33111	-0.9881	10	0.87932	D	0	.	7.0082	0.24848	0.8205:0.0:0.1795:0.0	.	252	Q13606	OR5I1_HUMAN	N	252	ENSP00000301532:I252N	ENSP00000301532:I252N	I	-	2	0	OR5I1	55459698	0.411000	0.25384	0.428000	0.26697	0.111000	0.19643	5.207000	0.65197	0.893000	0.36288	0.523000	0.50628	ATC	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391528.1		-	ENST00000301532.3	Missense_Mutation	SNP	11 : 55703122 - 55703122 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	204	11
PCDH15	65217	broad.mit.edu	37	10	55566772	55566772	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:55566772C>A	ENST00000373965.2	-	36	5016	c.4622G>T	c.(4621-4623)aGt>aTt	p.S1541I	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S1538N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATATTACTGTGGATACT	0.453		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											74	67	69			NA	NA	10		NA											NA				55566772		1568	3581	5149	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4622G>T	10.37:g.55566772C>A	ENSP00000363076:p.Ser1541Ile	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	C	15.19	2.759997	0.49468	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.65364	-0.15;-0.15	5.6	4.59	0.56863	.	.	.	.	.	T	0.44644	0.1303	L	0.47716	1.5	0.80722	D	1	P;P	0.39216	0.664;0.664	B;B	0.27500	0.08;0.08	T	0.54886	-0.8226	9	0.87932	D	0	.	3.092	0.06297	0.0:0.5059:0.2678:0.2263	.	1532;1538	C6ZEF7;C9J4F3	.;.	I	1541;1538;1534	ENSP00000363076:S1541I;ENSP00000410304:S1538I	ENSP00000363076:S1541I	S	-	2	0	PCDH15	55236778	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.394000	0.34509	2.627000	0.88993	0.655000	0.94253	AGT	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55566772 - 55566772 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	290	26
PPIL1	51645	broad.mit.edu	37	6	36824364	36824364	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:36824364G>A	ENST00000373699.5	-	3	529	c.278C>T	c.(277-279)aCg>aTg	p.T93M	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	93	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ACACTTACCCGTGAATTTCAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	101	105			NA	NA	6		NA											NA				36824364		2203	4300	6503	SO:0001583	missense			AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168	51645	51645			9260	protein-coding gene	gene with protein product		601301			NA	10072585, 8978786	Standard		NM_016059	NA	Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.278C>T	6.37:g.36824364G>A	ENSP00000362803:p.Thr93Met	NA	O15001|Q5TDC9	37	CCDS4826.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079101	0.94050	.	.	ENSG00000137168	ENST00000373699	T	0.22539	1.95	5.73	5.73	0.89815	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.84846	2.72	0.80722	D	1	D	0.67145	0.996	D	0.68765	0.96	T	0.47394	-0.9121	10	0.66056	D	0.02	.	17.4578	0.87612	0.0:0.0:1.0:0.0	.	93	Q9Y3C6	PPIL1_HUMAN	M	93	ENSP00000362803:T93M	ENSP00000362803:T93M	T	-	2	0	PPIL1	36932342	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	9.640000	0.98453	2.719000	0.93026	0.650000	0.86243	ACG	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040382.1		-	ENST00000373699.5	Missense_Mutation	SNP	6 : 36824364 - 36824364 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	371	84
PPP2R1B	5519	broad.mit.edu	37	11	111624222	111624222	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:111624222T>C	ENST00000426998.2	-	7	941	c.917A>G	c.(916-918)aAa>aGa	p.K306R	PPP2R1B_ENST00000427203.2_Missense_Mutation_p.K209R|PPP2R1B_ENST00000527614.1_Missense_Mutation_p.K370R|PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.K243R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.K370R	NM_181700.1	NP_859051.1	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	370							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GGTATTTTCTTTGCCCAAAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	91	92			NA	NA	11		NA											NA				111624222		2201	4297	6498	SO:0001583	missense			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	5519	5519	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9303	protein-coding gene	gene with protein product	PP2A-A-beta, protein phosphatase 2A, regulatory subunit A, beta isoform	603113	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform		NA	2159327, 9795170	Standard	NM_002716	NM_181699	NA	Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000426998.2:c.917A>G	11.37:g.111624222T>C	ENSP00000410671:p.Lys306Arg	NA	B0YJ69|O75620|Q8NHV8	37	CCDS53706.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193625	0.58017	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000393055	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.33137	0.985	0.52501	D	0.999952	B;B;B;B;B	0.18013	0.025;0.0;0.001;0.0;0.003	B;B;B;B;B	0.18871	0.01;0.001;0.006;0.001;0.023	T	0.03095	-1.1073	10	0.39692	T	0.17	-18.4605	13.9672	0.64216	0.0:0.0:0.0:1.0	.	243;209;306;370;370	A8MY67;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;2AAB_HUMAN;.	R	370;243;306;370;209;243	ENSP00000311344:K370R;ENSP00000410671:K306R;ENSP00000437193:K370R;ENSP00000415759:K209R;ENSP00000376775:K243R	ENSP00000311344:K370R	K	-	2	0	PPP2R1B	111129432	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.509000	0.81698	2.180000	0.69256	0.533000	0.62120	AAA	PPP2R1B-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391297.1		-	ENST00000426998.2	Missense_Mutation	SNP	11 : 111624222 - 111624222 C PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	280	46
PSD	5662	broad.mit.edu	37	10	104163099	104163099	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:104163099G>A	ENST00000020673.5	-	17	3459	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	PSD_ENST00000406432.1_Missense_Mutation_p.A978V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	978					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCGGCCTGGGCCAGTGCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	56	62			NA	NA	10		NA											NA				104163099		2203	4300	6503	SO:0001583	missense			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	5662	5662		Pleckstrin homology (PH) domain containing	9507	protein-coding gene	gene with protein product		602327	pleckstrin and Sec7 domain protein		NA	9417912	Standard		NM_002779	NA	Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2933C>T	10.37:g.104163099G>A	ENSP00000020673:p.Ala978Val	NA	B1AKX7|D3DR87|Q15673|Q8IVG0	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350837	0.24512	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.17854	2.25;2.25	4.62	3.67	0.42095	.	0.179711	0.40554	N	0.001066	T	0.11281	0.0275	L	0.38175	1.15	0.28948	N	0.890587	B;B;B	0.32051	0.354;0.227;0.125	B;B;B	0.32465	0.071;0.146;0.096	T	0.07966	-1.0745	10	0.45353	T	0.12	.	2.9344	0.05810	0.1017:0.1876:0.54:0.1708	.	978;881;599	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	V	978;881;978	ENSP00000020673:A978V;ENSP00000384830:A978V	ENSP00000020673:A978V	A	-	2	0	PSD	104153089	0.998000	0.40836	1.000000	0.80357	0.160000	0.22226	1.737000	0.38197	2.403000	0.81681	0.313000	0.20887	GCC	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050041.2		-	ENST00000020673.5	Missense_Mutation	SNP	10 : 104163099 - 104163099 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	479	34
PTCH2	8643	broad.mit.edu	37	1	45294923	45294923	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:45294923C>T	ENST00000372192.3	-	10	1407	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PTCH2_ENST00000447098.2_Missense_Mutation_p.G426D	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	426	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCGGCAAGGCCCACGGAACC	0.677		NA							Basal Cell Nevus syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	29	29			NA	NA	1		NA											NA				45294923		2202	4299	6501	SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425	8643	8643			9586	protein-coding gene	gene with protein product		603673	patched (Drosophila) homolog 2, patched homolog 2 (Drosophila)		NA	9811851, 9931336	Standard	NM_003738	NM_003738	NA	Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1277G>A	1.37:g.45294923C>T	ENSP00000361266:p.Gly426Asp	NA	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353281	0.82132	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92446	-3.04;-3.04	5.13	4.16	0.48862	Sterol-sensing domain (1);	0.140689	0.45126	D	0.000382	D	0.97164	0.9073	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.97955	1.0334	10	0.87932	D	0	-18.3065	14.0316	0.64619	0.1518:0.8482:0.0:0.0	.	426;426	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	D	426	ENSP00000389703:G426D;ENSP00000361266:G426D	ENSP00000361266:G426D	G	-	2	0	PTCH2	45067510	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.634000	0.67833	2.397000	0.81536	0.561000	0.74099	GGC	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023428.4		-	ENST00000372192.3	Missense_Mutation	SNP	1 : 45294923 - 45294923 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	328	75
PTPRS	5802	broad.mit.edu	37	19	5219432	5219432	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5219432G>A	ENST00000587303.1	-	22	3911	c.3812C>T	c.(3811-3813)cCg>cTg	p.P1271L	PTPRS_ENST00000372412.4_Missense_Mutation_p.P1272L|PTPRS_ENST00000592099.1_Missense_Mutation_p.P840L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1271L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P840L|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1249L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1267L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1249L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1271					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGGGGGTCCGGGTTATCCAG	0.592		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				5219432		2203	4300	6503	SO:0001583	missense			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426	5802	5802		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9681	protein-coding gene	gene with protein product		601576			NA	8954782, 8524829	Standard		NM_002850	NA	Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3812C>T	19.37:g.5219432G>A	ENSP00000467537:p.Pro1271Leu	NA	O75255|O75870|Q15718|Q16341|Q2M3R7	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	4.622	0.115594	0.08831	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54675	0.67;0.66;0.67;0.56;0.64	3.76	3.76	0.43208	.	0.180124	0.36628	U	0.002495	T	0.25044	0.0608	N	0.02960	-0.455	0.46499	D	0.999074	B;B;B;B;B;B	0.17268	0.003;0.003;0.021;0.004;0.012;0.021	B;B;B;B;B;B	0.20767	0.003;0.003;0.031;0.003;0.008;0.006	T	0.10245	-1.0638	10	0.11485	T	0.65	.	11.0988	0.48161	0.0:0.0:0.815:0.185	.	853;840;844;1249;1271;866	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	L	866;1272;1271;1271;1262;1267;1249;853;844;840	ENSP00000361489:P1272L;ENSP00000349932:P1271L;ENSP00000262963:P1267L;ENSP00000269907:P1249L;ENSP00000327313:P840L	ENSP00000262963:P1267L	P	-	2	0	PTPRS	5170432	1.000000	0.71417	0.942000	0.38095	0.861000	0.49209	4.323000	0.59221	1.956000	0.56807	0.557000	0.71058	CCG	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450762.2		-	ENST00000587303.1	Missense_Mutation	SNP	19 : 5219432 - 5219432 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	568	104
RANBP3	8498	broad.mit.edu	37	19	5978075	5978075	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5978075C>G	ENST00000340578.6	-	1	76	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	RANBP3_ENST00000541471.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E7Q|RANBP3_ENST00000034275.8_Missense_Mutation_p.E7Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000591124.1_5'UTR	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	7					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCCCTACCTTCGTTCGCCAGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	19		NA											NA				5978075		1851	4091	5942	SO:0001583	missense			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05					8498	8498			9850	protein-coding gene	gene with protein product		603327			NA	9637251	Standard	NM_007322	NM_007322	NA	Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.19G>C	19.37:g.5978075C>G	ENSP00000341483:p.Glu7Gln	NA	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634073	0.67130	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000541471	T;T;T;T	0.36878	1.23;1.24;2.08;1.53	5.02	5.02	0.67125	.	0.634518	0.15243	U	0.272773	T	0.41465	0.1160	N	0.24115	0.695	0.18873	N	0.999988	D;D;D;D;D;D	0.71674	0.998;0.997;0.997;0.998;0.998;0.997	D;D;D;D;D;D	0.79108	0.992;0.983;0.983;0.992;0.992;0.983	T	0.18713	-1.0328	10	0.07030	T	0.85	.	13.8316	0.63384	0.0:1.0:0.0:0.0	.	7;7;7;7;7;7	F5H4C2;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;RANB3_HUMAN	Q	7	ENSP00000341483:E7Q;ENSP00000404837:E7Q;ENSP00000034275:E7Q;ENSP00000445071:E7Q	ENSP00000034275:E7Q	E	-	1	0	RANBP3	5929075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.318000	0.78349	0.655000	0.94253	GAA	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452304.1		-	ENST00000340578.6	Missense_Mutation	SNP	19 : 5978075 - 5978075 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	308	22
RNF182	221687	broad.mit.edu	37	6	13977539	13977539	+	Silent	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:13977539C>G	ENST00000488300.1	+	3	712	c.189C>G	c.(187-189)gtC>gtG	p.V63V	RNF182_ENST00000537663.1_Silent_p.V63V|RNF182_ENST00000537388.1_Silent_p.V63V|RNF182_ENST00000544682.1_Silent_p.V63V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	63						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTGTCATTGTCTGTCCTTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	145	148			NA	NA	6		NA											NA				13977539		2203	4300	6503	SO:0001819	synonymous_variant			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537	221687	221687		RING-type (C3HC4) zinc fingers	28522	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152737	NM_152737	NA	Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.189C>G	6.37:g.13977539C>G		NA	B2RDG2|Q8NBG3	37	CCDS4531.1																																																																																			RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039911.2		+	ENST00000488300.1	Silent	SNP	6 : 13977539 - 13977539 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	1090	177
ROCK1	6093	broad.mit.edu	37	18	18608802	18608802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:18608802delA	ENST00000399799.2	-	10	2086	c.1146delT	c.(1144-1146)cctfs	p.P382fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	NA	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTAGGAATAGGGAATGTTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	151	151			NA	NA	18		NA											NA				18608802		2203	4300	6503	SO:0001589	frameshift_variant				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	6093	6093	2.7.11.1	Pleckstrin homology (PH) domain containing	10251	protein-coding gene	gene with protein product		601702			NA	8617235	Standard	NM_005406	NM_005406	NA	Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1146delT	18.37:g.18608802delA	ENSP00000382697:p.Pro382fs	NA	B0YJ91|Q2KHM4|Q59GZ4	37	CCDS11870.2																																																																																			ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254641.2		-	ENST00000399799.2	Frame_Shift_Del	DEL	18 : 18608802 - 18608802 - PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	592	100
RP1	6101	broad.mit.edu	37	8	55541791	55541791	+	Silent	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:55541791A>G	ENST00000220676.1	+	4	5497	c.5349A>G	c.(5347-5349)gtA>gtG	p.V1783V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1783					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAGTGAGGTACCATATTCAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(91;1014 1389 7634 14542 40420)							NA				0													83	82	82			NA	NA	8		NA											NA				55541791		2203	4300	6503	SO:0001819	synonymous_variant			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237	6101	6101			10263	protein-coding gene	gene with protein product		603937			NA	1783394	Standard	NM_006269	NM_006269	NA	Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5349A>G	8.37:g.55541791A>G		NA		37	CCDS6160.1																																																																																			RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378532.2		+	ENST00000220676.1	Silent	SNP	8 : 55541791 - 55541791 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	301	16
RP11-867G23.8	0	broad.mit.edu	37	11	66130881	66130881	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:66130881C>A	ENST00000531602.1	+	2	263	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	SLC29A2_ENST00000311161.7_3'UTR|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000357440.2_3'UTR|SLC29A2_ENST00000544554.1_3'UTR|SLC29A2_ENST00000546034.1_3'UTR						NA								p.L44M(1)		kidney(1)	1						CGAGAAGAGGCTGCCAAAGAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											42	39	40			NA	NA	11		NA											NA				66130881		2192	4293	6485	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000531602.1:c.130C>A	11.37:g.66130881C>A	ENSP00000435142:p.Leu44Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	6.121	0.390492	0.11581	.	.	ENSG00000255468	ENST00000531602	.	.	.	3.61	-0.912	0.10504	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38394	-0.9663	5	0.87932	D	0	.	3.0762	0.06247	0.407:0.3684:0.0:0.2246	.	.	.	.	M	44	.	ENSP00000435142:L44M	L	+	1	2	RP11-867G23.8	65887457	0.001000	0.12720	0.001000	0.08648	0.034000	0.12701	-0.267000	0.08619	-0.274000	0.09232	-0.302000	0.09304	CTG	RP11-867G23.8-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391898.1		+	ENST00000531602.1	Missense_Mutation	SNP	11 : 66130881 - 66130881 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	122	9
SEC31B	25956	broad.mit.edu	37	10	102249858	102249858	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:102249858G>A	ENST00000370345.3	-	21	2969	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	958	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGCTTGCAGGAGGGGCTGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	10		NA											NA				102249858		2203	4300	6503	SO:0001583	missense			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826	25956	25956		WD repeat domain containing	23197	protein-coding gene	gene with protein product		610258	SEC31-like 2 (S. cerevisiae)	SEC31L2	NA	16495487	Standard	NM_015490	NM_015490	NA	Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2872C>T	10.37:g.102249858G>A	ENSP00000359370:p.Pro958Ser	NA	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	37	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770537	0.15983	.	.	ENSG00000075826	ENST00000370345	T	0.56275	0.47	5.37	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.70275	2.135	0.80722	D	1	P;P	0.36412	0.472;0.552	B;B	0.33521	0.165;0.064	T	0.51426	-0.8707	10	0.59425	D	0.04	-6.728	7.5146	0.27593	0.0908:0.1658:0.7435:0.0	.	957;958	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	958	ENSP00000359370:P958S	ENSP00000359370:P958S	P	-	1	0	SEC31B	102239848	0.998000	0.40836	0.924000	0.36721	0.048000	0.14542	1.939000	0.40213	1.256000	0.44068	0.561000	0.74099	CCT	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051198.1		-	ENST00000370345.3	Missense_Mutation	SNP	10 : 102249858 - 102249858 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	653	120
SPTA1	6708	broad.mit.edu	37	1	158618345	158618345	+	Missense_Mutation	SNP	C	C	T	rs148714399	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:158618345C>T	ENST00000368147.4	-	26	3848	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1223Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATGCCGTCGCTGAAGAGC	0.507		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	2e-04	NA	NA	NA	6e-04	0.8338	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	1,3899		0,1,1949	121	120	121		3668	5.5	1	1	dbSNP_134	121	0,8280		0,0,4140	no	missense	SPTA1	NM_003126.2	43	0,1,6089	TT,TC,CC	NA	0.0,0.0256,0.0082	probably-damaging	1223/2420	158618345	1,12179	1950	4140	6090	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3668G>A	1.37:g.158618345C>T	ENSP00000357129:p.Arg1223Gln	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.794612	0.96952	2.56E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48201	0.82;0.82	5.5	5.5	0.81552	.	0.000000	0.28560	N	0.014914	T	0.68044	0.2958	M	0.84082	2.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.70193	-0.4939	10	0.62326	D	0.03	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	1223	P02549	SPTA1_HUMAN	Q	1223	ENSP00000357130:R1223Q;ENSP00000357129:R1223Q	ENSP00000357129:R1223Q	R	-	2	0	SPTA1	156884969	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.130000	0.77235	2.861000	0.98227	0.655000	0.94253	CGA	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158618345 - 158618345 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	676	75
SREBF2	6721	broad.mit.edu	37	22	42300961	42300961	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42300961C>T	ENST00000361204.4	+	18	3354	c.3188C>T	c.(3187-3189)aCg>aTg	p.T1063M	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	1063					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CGGCGCACCACGCAGAGCACC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	22		NA											NA				42300961		2190	4292	6482	SO:0001583	missense			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911	6721	6721		Basic helix-loop-helix proteins	11290	protein-coding gene	gene with protein product		600481			NA	7903453	Standard	NM_004599	NM_004599	NA	Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.3188C>T	22.37:g.42300961C>T	ENSP00000354476:p.Thr1063Met	NA	Q6GTH7|Q86V36|Q9UH04	37	CCDS14023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.37|15.37	2.813359|2.813359	0.50527|0.50527	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000435061|ENST00000361204;ENST00000457567;ENST00000543221	.|T	.|0.19806	.|2.12	5.48|5.48	4.46|4.46	0.54185|0.54185	.|.	.|0.538200	.|0.22119	.|N	.|0.064371	T|T	0.14657|0.14657	0.0354|0.0354	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	0.999998|0.999998	.|P	.|0.40332	.|0.713	.|B	.|0.29353	.|0.101	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.44086	.|T	.|0.13	-3.268|-3.268	13.6689|13.6689	0.62412|0.62412	0.0:0.9258:0.0:0.0742|0.0:0.9258:0.0:0.0742	.|.	.|1063	.|Q12772	.|SRBP2_HUMAN	C|M	252|1063;1063;137	.|ENSP00000354476:T1063M	.|ENSP00000354476:T1063M	R|T	+|+	1|2	0|0	SREBF2|SREBF2	40630907|40630907	0.006000|0.006000	0.16342|0.16342	0.006000|0.006000	0.13384|0.13384	0.089000|0.089000	0.18198|0.18198	2.261000|2.261000	0.43276|0.43276	2.572000|2.572000	0.86782|0.86782	0.491000|0.491000	0.48974|0.48974	CGC|ACG	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321956.1		+	ENST00000361204.4	Missense_Mutation	SNP	22 : 42300961 - 42300961 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	102	7
STAU2	27067	broad.mit.edu	37	8	74516052	74516052	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:74516052G>A	ENST00000521451.1	-	5	654	c.278C>T	c.(277-279)gCg>gTg	p.A93V	STAU2_ENST00000524300.1_Missense_Mutation_p.A313V|STAU2_ENST00000522695.1_Missense_Mutation_p.A281V|STAU2_ENST00000519961.1_Missense_Mutation_p.A313V|STAU2_ENST00000521727.1_Missense_Mutation_p.A293V|STAU2_ENST00000517542.1_Missense_Mutation_p.A275V|STAU2_ENST00000522509.1_Missense_Mutation_p.A281V|STAU2_ENST00000523558.1_Missense_Mutation_p.A141V|STAU2_ENST00000521210.1_Missense_Mutation_p.A209V|STAU2_ENST00000355780.5_Missense_Mutation_p.A281V			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	313					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTGAATTTGCGCCAGGCGGCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	8		NA											NA				74516052		2203	4300	6503	SO:0001583	missense			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341	27067	27067			11371	protein-coding gene	gene with protein product		605920	staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila)		NA	10585778	Standard	NM_001164380	NM_014393	NA	Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.278C>T	8.37:g.74516052G>A	ENSP00000428476:p.Ala93Val	NA	Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	37		.	.	.	.	.	.	.	.	.	.	G	26.4	4.732859	0.89482	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767	T;T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	N	0.17674	0.51	0.80722	D	1	P;D;D;D;P;D;D;D	0.89917	0.951;0.968;1.0;0.968;0.842;0.999;1.0;0.995	B;P;D;P;B;D;D;D	0.91635	0.32;0.63;0.999;0.503;0.214;0.995;0.996;0.932	T	0.76694	-0.2865	10	0.20519	T	0.43	-21.0875	19.8791	0.96888	0.0:0.0:1.0:0.0	.	293;209;141;209;281;313;281;313	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	V	281;313;141;209;281;313;293;93;281;275;141	ENSP00000428456:A281V;ENSP00000428756:A313V;ENSP00000428741:A141V;ENSP00000429173:A209V;ENSP00000348026:A281V;ENSP00000430907:A313V;ENSP00000429973:A293V;ENSP00000428476:A93V;ENSP00000427977:A281V;ENSP00000431111:A275V;ENSP00000429005:A141V	ENSP00000344030:A141V	A	-	2	0	STAU2	74678606	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.218000	0.95166	2.706000	0.92434	0.585000	0.79938	GCG	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379006.4		-	ENST00000521451.1	Missense_Mutation	SNP	8 : 74516052 - 74516052 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	405	101
TCTE1	202500	broad.mit.edu	37	6	44255545	44255545	+	Silent	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:44255545C>A	ENST00000371505.4	-	2	140	c.18G>T	c.(16-18)acG>acT	p.T6T	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	6										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGCTGATGTCGTTACGGTAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	88	101			NA	NA	6		NA											NA				44255545		2203	4300	6503	SO:0001819	synonymous_variant			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221	202500	202500			11693	protein-coding gene	gene with protein product		186975			NA	2568335, 8646886	Standard	NM_182539	NM_182539	NA	Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.18G>T	6.37:g.44255545C>A		NA	B4DX59|Q8IYS6	37	CCDS4910.1																																																																																			TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040736.1		-	ENST00000371505.4	Silent	SNP	6 : 44255545 - 44255545 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	251	10
TENM3	55714	broad.mit.edu	37	4	183696229	183696229	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:183696229G>A	ENST00000511685.1	+	24	5350	c.5227G>A	c.(5227-5229)Ggt>Agt	p.G1743S	TENM3_ENST00000406950.2_Missense_Mutation_p.G1743S					teneurin transmembrane protein 3	NA											NA						TGGCGAGAACGGTCAAAACTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	1,4037		0,1,2018	81	80	80		5227	4.6	0.9	4		80	0,8342		0,0,4171	no	missense	ODZ3	NM_001080477.1	56	0,1,6189	AA,AG,GG	NA	0.0,0.0248,0.0081	benign	1743/2700	183696229	1,12379	2019	4171	6190	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.5227G>A	4.37:g.183696229G>A	ENSP00000424226:p.Gly1743Ser	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533949	0.85812	2.48E-4	0.0	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86097	-2.07;-2.07	4.62	4.62	0.57501	.	.	.	.	.	D	0.90758	0.7099	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88705	0.3218	9	0.28530	T	0.3	.	18.0309	0.89283	0.0:0.0:1.0:0.0	.	1743	Q9P273	TEN3_HUMAN	S	1743	ENSP00000424226:G1743S;ENSP00000385276:G1743S	ENSP00000385276:G1743S	G	+	1	0	ODZ3	183933223	1.000000	0.71417	0.924000	0.36721	0.633000	0.38033	7.763000	0.85283	2.546000	0.85860	0.650000	0.86243	GGT	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183696229 - 183696229 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	470	100
TENM4	26011	broad.mit.edu	37	11	78381519	78381519	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:78381519C>T	ENST00000278550.7	-	32	6333	c.5871G>A	c.(5869-5871)acG>acA	p.T1957T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						CGTTGGGCATCGTCACAGAAG	0.537		NA											C	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	EXOME	NA	NA	4e-04	SNP								NA				0													68	71	70			NA	NA	11		NA											NA				78381519		2009	4161	6170	SO:0001819	synonymous_variant			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5871G>A	11.37:g.78381519C>T		NA		37	CCDS44688.1																																																																																			TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2		-	ENST00000278550.7	Silent	SNP	11 : 78381519 - 78381519 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	463	73
TLR4	7099	broad.mit.edu	37	9	120475078	120475078	+	Silent	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:120475078A>G	ENST00000355622.6	+	3	773	c.672A>G	c.(670-672)aaA>aaG	p.K224K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.K184K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	224					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGCATTTAAAGAAATTAGGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	56	54			NA	NA	9		NA											NA				120475078		2186	4296	6482	SO:0001819	synonymous_variant			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869	7099	7099		CD molecules	11850	protein-coding gene	gene with protein product		603030			NA	9435236, 9237759	Standard	NM_138554	NM_138554	NA	Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.672A>G	9.37:g.120475078A>G		NA	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	37	CCDS6818.1																																																																																			TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055549.3		+	ENST00000355622.6	Silent	SNP	9 : 120475078 - 120475078 G PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	437	39
TOR1AIP1	26092	broad.mit.edu	37	1	179887348	179887348	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:179887348G>A	ENST00000606911.2	+	10	1917	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.A592T|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.A455T|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.A577T			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	NA						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACCTGAAAATGCCCTGAAAAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	1		NA											NA				179887348		2202	4299	6501	SO:0001583	missense				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337	26092	26092			29456	protein-coding gene	gene with protein product	lamina associated polypeptide 1B	614512			NA	12061773, 15767459	Standard	NM_015602	NM_015602	NA	Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1726G>A	1.37:g.179887348G>A	ENSP00000476687:p.Ala576Thr	NA	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	37	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	G	7.262	0.605348	0.14002	.	.	ENSG00000143337	ENST00000325993;ENST00000271583;ENST00000435319	T;T	0.27720	1.65;1.65	5.85	1.27	0.21489	.	0.561061	0.19308	N	0.117477	T	0.18882	0.0453	L	0.35723	1.085	0.09310	N	1	B	0.25904	0.137	B	0.23018	0.043	T	0.15867	-1.0422	9	.	.	.	-0.0438	5.7073	0.17915	0.2627:0.0:0.5051:0.2322	.	576	Q5JTV8	TOIP1_HUMAN	T	371;592;576	ENSP00000271583:A592T;ENSP00000393292:A576T	.	A	+	1	0	TOR1AIP1	178153971	0.983000	0.35010	0.011000	0.14972	0.435000	0.31806	1.398000	0.34554	0.355000	0.24131	-0.140000	0.14226	GCC	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100313.4		+	ENST00000606911.2	Missense_Mutation	SNP	1 : 179887348 - 179887348 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	378	70
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	NA					activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGACTTAGTACCTGAAGGGTG	0.458		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	GRCh37	CD002536	TP53	D	rs11575997						115	108	111			NA	NA	17		NA											NA				7576852		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.993+1G>A	17.37:g.7576852C>T		NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361474	0.41801	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1	Intron	-	ENST00000420246.2	Splice_Site	SNP	17 : 7576852 - 7576852 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	435	71
TTI1	9675	broad.mit.edu	37	20	36641253	36641253	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:36641253A>C	ENST00000373448.2	-	3	1204	c.966T>G	c.(964-966)agT>agG	p.S322R	TTI1_ENST00000449821.1_Missense_Mutation_p.S322R|TTI1_ENST00000373447.3_Missense_Mutation_p.S322R|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	322							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCAATGATTGACTGCACTTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	110	111			NA	NA	20		NA											NA				36641253		2203	4300	6503	SO:0001583	missense			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407	9675	9675			29029	protein-coding gene	gene with protein product	smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)	614425	KIAA0406, Tel2 interacting protein 1 homolog (S. pombe)	KIAA0406	NA	9455477, 20427287, 20371770	Standard	NM_014657	NM_014657	NA	Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.966T>G	20.37:g.36641253A>C	ENSP00000362547:p.Ser322Arg	NA	Q5JX67|Q96A38|Q9BR47|Q9H4K0	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	A	3.903	-0.021704	0.07634	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.67345	-0.26;-0.26;-0.26	5.64	0.0874	0.14450	Armadillo-like helical (1);Armadillo-type fold (1);	0.249334	0.53938	D	0.000043	T	0.40423	0.1116	L	0.28192	0.835	0.31583	N	0.654892	B	0.06786	0.001	B	0.09377	0.004	T	0.11616	-1.0580	10	0.11794	T	0.64	-12.0908	1.684	0.02838	0.4112:0.1919:0.2815:0.1154	.	322	O43156	TTI1_HUMAN	R	322	ENSP00000362547:S322R;ENSP00000362546:S322R;ENSP00000407270:S322R	ENSP00000362546:S322R	S	-	3	2	TTI1	36074667	0.021000	0.18746	0.979000	0.43373	0.480000	0.33159	-0.203000	0.09438	0.123000	0.18342	-0.263000	0.10527	AGT	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079138.2		-	ENST00000373448.2	Missense_Mutation	SNP	20 : 36641253 - 36641253 C PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	997	280
USP10	9100	broad.mit.edu	37	16	84812641	84812641	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:84812641G>A	ENST00000219473.7	+	14	2463	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	USP10_ENST00000570191.1_Missense_Mutation_p.E788K	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	784					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACCAACTGCTGAACGCACAGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	16		NA											NA				84812641		2054	4191	6245	SO:0001583	missense			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194	9100	9100		Ubiquitin-specific peptidases	12608	protein-coding gene	gene with protein product		609818	ubiquitin specific protease 10		NA	12838346	Standard		NM_005153	NA	Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2350G>A	16.37:g.84812641G>A	ENSP00000219473:p.Glu784Lys	NA	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	37	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771873	0.49680	.	.	ENSG00000103194	ENST00000219473	T	0.29655	1.56	4.71	4.71	0.59529	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.250610	0.40469	N	0.001098	T	0.25975	0.0633	L	0.31294	0.92	0.80722	D	1	P;B	0.40834	0.73;0.316	B;B	0.39339	0.22;0.297	T	0.03922	-1.0992	10	0.37606	T	0.19	-6.6804	16.6602	0.85238	0.0:0.0:1.0:0.0	.	788;784	Q14694-3;Q14694	.;UBP10_HUMAN	K	784	ENSP00000219473:E784K	ENSP00000219473:E784K	E	+	1	0	USP10	83370142	1.000000	0.71417	0.571000	0.28486	0.357000	0.29423	9.006000	0.93592	2.155000	0.67459	0.655000	0.94253	GAA	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433660.1		+	ENST00000219473.7	Missense_Mutation	SNP	16 : 84812641 - 84812641 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	615	43
WNK4	65266	broad.mit.edu	37	17	40940393	40940393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:40940393C>T	ENST00000246914.5	+	10	2029	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	670					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAATCTCCGGCGCAGACCCCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(6;201 374 4964 23855 42828)							NA				0													40	42	41			NA	NA	17		NA											NA				40940393		2203	4300	6503	SO:0001583	missense			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562	65266	65266			14544	protein-coding gene	gene with protein product		601844	protein kinase, lysine deficient 4	PRKWNK4	NA		Standard		NM_032387	NA	Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2008C>T	17.37:g.40940393C>T	ENSP00000246914:p.Arg670Cys	NA	Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358468	0.82243	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.34072	1.38	5.35	5.35	0.76521	.	0.000000	0.49305	D	0.000150	T	0.59459	0.2195	M	0.61703	1.905	0.49798	D	0.999823	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.988;0.988	T	0.61959	-0.6955	10	0.87932	D	0	-15.3513	17.8301	0.88679	0.0:1.0:0.0:0.0	.	14;670;670;670	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	C	670;442;14	ENSP00000246914:R670C	ENSP00000246914:R670C	R	+	1	0	WNK4	38193919	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.092000	0.50207	2.520000	0.84964	0.549000	0.68633	CGC	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452389.1		+	ENST00000246914.5	Missense_Mutation	SNP	17 : 40940393 - 40940393 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	318	59
ZFHX3	463	broad.mit.edu	37	16	72923765	72923765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:72923765G>A	ENST00000268489.5	-	4	3985	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q191*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1105					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCACATGCTGGATGAGGTTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	77	87			NA	NA	16		NA											NA				72923765		2198	4300	6498	SO:0001587	stop_gained			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3313C>T	16.37:g.72923765G>A	ENSP00000268489:p.Gln1105*	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	50	16.503353	0.99865	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.71	5.71	0.89125	.	0.000000	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8299	0.96631	0.0:0.0:1.0:0.0	.	.	.	.	X	1105;191	.	ENSP00000268489:Q1105X	Q	-	1	0	ZFHX3	71481266	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.852000	0.99516	2.698000	0.92095	0.511000	0.50034	CAG	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Nonsense_Mutation	SNP	16 : 72923765 - 72923765 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	388	51
ZIC1	7545	broad.mit.edu	37	3	147128364	147128364	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:147128364G>A	ENST00000282928.4	+	1	1194	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	155					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACGCGTCGCCTAACGTGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	19			NA	NA	3		NA											NA				147128364		2196	4296	6492	SO:0001819	synonymous_variant			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977	7545	7545		Zinc fingers, C2H2-type	12872	protein-coding gene	gene with protein product		600470	Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila)		NA	8542595	Standard	NM_003412	NM_003412	NA	Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.465G>A	3.37:g.147128364G>A		NA	Q2M3N1	37	CCDS3136.1																																																																																			ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355497.1		+	ENST00000282928.4	Silent	SNP	3 : 147128364 - 147128364 A PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	177	62
ZNF491	126069	broad.mit.edu	37	19	11917498	11917498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:11917498G>T	ENST00000323169.5	+	3	1061	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAAACCCTATGAATGTAAACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	54	53			NA	NA	19		NA											NA				11917498		2203	4300	6503	SO:0001587	stop_gained			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599	126069	126069		Zinc fingers, C2H2-type	23706	protein-coding gene	gene with protein product					NA		Standard	NM_152356	XM_005259730	NA	Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.730G>T	19.37:g.11917498G>T	ENSP00000313443:p.Glu244*	NA	Q3MJ35|Q8NAT8	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.005864	0.74932	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	.	.	.	0.981	-0.104	0.13605	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	2.8933	0.05682	0.191:0.0:0.5452:0.2638	.	.	.	.	X	244;216	.	ENSP00000313443:E244X	E	+	1	0	ZNF491	11778498	0.000000	0.05858	0.031000	0.17742	0.285000	0.27093	-3.284000	0.00527	0.010000	0.14839	0.505000	0.49811	GAA	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344518.1		+	ENST00000323169.5	Nonsense_Mutation	SNP	19 : 11917498 - 11917498 T PAAD-TCGA-HZ-8005-Tumor-SM-2RBK8	320	11
