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
ACAN	176	broad.mit.edu	37	15	89402244	89402244	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:89402244G>C	ENST00000559004.1	+	12	6486	c.6428G>C	c.(6427-6429)aGa>aCa	p.R2143T	ACAN_ENST00000561243.1_Missense_Mutation_p.R2143T|ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T|ACAN_ENST00000439576.2_Missense_Mutation_p.R2143T			E7EX88	E7EX88_HUMAN	aggrecan	2143					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AACCTTGAGAGATCCTCTGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	80			NA	NA	15		NA											NA				89402244		2089	4222	6311	SO:0001583	missense			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.6428G>C	15.37:g.89402244G>C	ENSP00000453499:p.Arg2143Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	0.001	-3.123810	0.00031	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.01804	4.8;4.63	4.78	0.0257	0.14146	.	1.021840	0.07884	N	0.969992	T	0.00875	0.0029	N	0.03608	-0.345	0.09310	N	1	B;B	0.22346	0.041;0.068	B;B	0.17433	0.018;0.018	T	0.48479	-0.9032	10	0.13108	T	0.6	2.0912	4.3001	0.10920	0.1066:0.5139:0.2441:0.1353	.	2143;2143	E7ENV9;E7EX88	.;.	T	2143;2143;2029	ENSP00000387356:R2143T;ENSP00000341615:R2143T	ENSP00000268134:R2029T	R	+	2	0	ACAN	87203248	0.000000	0.05858	0.010000	0.14722	0.065000	0.16274	-0.708000	0.05035	0.410000	0.25675	0.555000	0.69702	AGA	ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Missense_Mutation	SNP	15 : 89402244 - 89402244 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	563	8
ACRV1	56	broad.mit.edu	37	11	125548083	125548083	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:125548083A>G	ENST00000533904.1	-	2	504	c.162T>C	c.(160-162)gcT>gcC	p.A54A	ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000315608.3_Silent_p.A54A|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000348856.3_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	54					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCTCATATAAAGCCTCAGCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	62	64			NA	NA	11		NA											NA				125548083		2201	4299	6500	SO:0001819	synonymous_variant			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940	56	56			127	protein-coding gene	gene with protein product	sperm protein 10	102525			NA	1693291, 8288254	Standard	NM_001612	NM_001612	NA	Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.162T>C	11.37:g.125548083A>G		NA	Q53FF4	37	CCDS8460.1																																																																																			ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386722.1		-	ENST00000533904.1	Silent	SNP	11 : 125548083 - 125548083 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	339	87
ALG12	79087	broad.mit.edu	37	22	50303671	50303671	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:50303671C>T	ENST00000330817.6	-	5	808	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	NA					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGATGATGGCGAAGGCTGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	48	49			NA	NA	22		NA											NA				50303671		2203	4300	6503	SO:0001583	missense			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	79087	79087	2.4.1.260	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	19358	protein-coding gene	gene with protein product	dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase, dol-P-Man dependent alpha-1,6-mannosyltransferase	607144	asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase), asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)		NA	11983712	Standard	NM_024105	NM_024105	NA	Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.535G>A	22.37:g.50303671C>T	ENSP00000333813:p.Ala179Thr	NA	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	37	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939391	0.52972	.	.	ENSG00000182858	ENST00000330817	T	0.64991	-0.13	4.44	3.42	0.39159	.	0.161366	0.53938	D	0.000044	T	0.65729	0.2719	L	0.58302	1.8	0.42474	D	0.992838	D	0.54772	0.968	P	0.51079	0.658	T	0.66559	-0.5893	10	0.35671	T	0.21	-16.6342	13.9771	0.64279	0.0:0.9236:0.0:0.0764	.	179	Q9BV10	ALG12_HUMAN	T	179	ENSP00000333813:A179T	ENSP00000333813:A179T	A	-	1	0	ALG12	48689675	0.995000	0.38212	0.008000	0.14137	0.008000	0.06430	3.331000	0.52075	1.166000	0.42689	-0.205000	0.12727	GCC	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317405.2		-	ENST00000330817.6	Missense_Mutation	SNP	22 : 50303671 - 50303671 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	121	24
ANKMY1	51281	broad.mit.edu	37	2	241496633	241496633	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:241496633C>T	ENST00000403283.1	-	2	516	c.357G>A	c.(355-357)ctG>ctA	p.L119L	ANKMY1_ENST00000401804.1_Silent_p.L40L|ANKMY1_ENST00000361678.4_Silent_p.L40L|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000373318.2_Silent_p.L40L|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000406958.1_Silent_p.L40L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CGTAGTTCTTCAGGGACCCCG	0.677		NA									OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	53	51			NA	NA	2		NA											NA				241496633		2203	4298	6501	SO:0001819	synonymous_variant			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504	51281	51281		Zinc fingers, MYND-type, Ankyrin repeat domain containing	20987	protein-coding gene	gene with protein product					NA		Standard	NM_017844	XM_005247020	NA	Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000403283.1:c.357G>A	2.37:g.241496633C>T		2427	B2RB78|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	37																																																																																				ANKMY1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325900.2		-	ENST00000403283.1	Silent	SNP	2 : 241496633 - 241496633 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	572	12
ANKRD30B	374860	broad.mit.edu	37	18	14763729	14763729	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763729G>A	ENST00000358984.4	+	7	1045	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E289K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	289										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCTTGGCGGAAAGAACACC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	33	33			NA	NA	18		NA											NA				14763729		692	1591	2283	SO:0001583	missense			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777	374860	374860		Ankyrin repeat domain containing	24165	protein-coding gene	gene with protein product					NA	11280766	Standard	NM_001145029	NM_001145029	NA	Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.865G>A	18.37:g.14763729G>A	ENSP00000351875:p.Glu289Lys	NA	Q4G175	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.19	1.282424	0.23392	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.32023	1.52;1.47	0.235	0.235	0.15431	.	.	.	.	.	T	0.17619	0.0423	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.29181	-1.0020	8	0.20519	T	0.43	.	.	.	.	.	289	F8WAG3	.	K	289	ENSP00000351875:E289K;ENSP00000399031:E289K	ENSP00000351875:E289K	E	+	1	0	ANKRD30B	14753729	0.007000	0.16637	0.007000	0.13788	0.007000	0.05969	0.308000	0.19314	0.308000	0.22923	0.313000	0.20887	GAA	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443557.1		+	ENST00000358984.4	Missense_Mutation	SNP	18 : 14763729 - 14763729 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	263	70
ANKRD30B	374860	broad.mit.edu	37	18	14763906	14763906	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763906G>A	ENST00000358984.4	+	7	1222	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E348K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	348										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAACATCTGAGAAATTTTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	65	68			NA	NA	18		NA											NA				14763906		692	1591	2283	SO:0001583	missense			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777	374860	374860		Ankyrin repeat domain containing	24165	protein-coding gene	gene with protein product					NA	11280766	Standard	NM_001145029	NM_001145029	NA	Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1042G>A	18.37:g.14763906G>A	ENSP00000351875:p.Glu348Lys	NA	Q4G175	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.36	1.329554	0.24167	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.37058	1.22;1.28	0.235	0.235	0.15431	.	.	.	.	.	T	0.23370	0.0565	L	0.47716	1.5	0.09310	N	1	P	0.45594	0.862	B	0.34722	0.188	T	0.12915	-1.0529	8	0.30854	T	0.27	.	.	.	.	.	348	F8WAG3	.	K	348	ENSP00000351875:E348K;ENSP00000399031:E348K	ENSP00000351875:E348K	E	+	1	0	ANKRD30B	14753906	0.019000	0.18553	0.009000	0.14445	0.009000	0.06853	0.308000	0.19314	0.308000	0.22923	0.313000	0.20887	GAG	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443557.1		+	ENST00000358984.4	Missense_Mutation	SNP	18 : 14763906 - 14763906 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	90	29
ANO6	196527	broad.mit.edu	37	12	45814920	45814920	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45814920C>T	ENST00000320560.8	+	18	2486	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S|ANO6_ENST00000435642.1_Missense_Mutation_p.P762S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	762					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTCTCCGTCCCTCCCTACGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	156	166			NA	NA	12		NA											NA				45814920		2203	4300	6503	SO:0001583	missense			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28			196527	196527		Ion channels / Chloride channels : Calcium activated : Anoctamins	25240	protein-coding gene	gene with protein product		608663	transmembrane protein 16F	TMEM16F	NA	15067359, 24692353	Standard	XM_113743	NM_001025356	NA	Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2284C>T	12.37:g.45814920C>T	ENSP00000320087:p.Pro762Ser	NA	A6NNM6|Q8N3Q2	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759155	0.31137	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69435	-0.4;-0.27;-0.4;-0.26;-0.26	5.05	5.05	0.67936	.	0.319688	0.35151	N	0.003416	T	0.55784	0.1942	L	0.34521	1.04	0.46798	D	0.999205	B;B;B;B	0.27068	0.008;0.055;0.167;0.006	B;B;B;B	0.23018	0.019;0.02;0.031;0.043	T	0.51718	-0.8670	10	0.13853	T	0.58	.	19.2834	0.94061	0.0:1.0:0.0:0.0	.	744;783;762;762	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	762;783;762;762;744	ENSP00000391417:P762S;ENSP00000409126:P783S;ENSP00000413840:P762S;ENSP00000320087:P762S;ENSP00000413137:P744S	ENSP00000320087:P762S	P	+	1	0	ANO6	44101187	0.996000	0.38824	0.803000	0.32268	0.219000	0.24729	3.992000	0.56980	2.717000	0.92951	0.650000	0.86243	CCT	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404822.1		+	ENST00000320560.8	Missense_Mutation	SNP	12 : 45814920 - 45814920 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	521	158
ARF1	375	broad.mit.edu	37	1	228285699	228285699	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:228285699C>T	ENST00000541182.1	+	5	793	c.531C>T	c.(529-531)ctC>ctT	p.L177L	ARF1_ENST00000540651.1_Silent_p.L177L|ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	177					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAATCAGCTCCGGAACCAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	60	63			NA	NA	1		NA											NA				228285699		2203	4300	6503	SO:0001819	synonymous_variant			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761	375	375		ADP-ribosylation factors, Endogenous ligands	652	protein-coding gene	gene with protein product		103180			NA	1577740	Standard	NM_001024227	NM_001658	NA	Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.531C>T	1.37:g.228285699C>T		NA	P10947|P32889	37	CCDS1565.1																																																																																			ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091650.1		+	ENST00000541182.1	Silent	SNP	1 : 228285699 - 228285699 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	336	26
ARHGAP33	115703	broad.mit.edu	37	19	36271129	36271129	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36271129G>A	ENST00000378944.5	+	6	564	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	ARHGAP33_ENST00000007510.4_Missense_Mutation_p.R173Q|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q	NM_001172630.1	NP_001166101.1	O14559	RHG33_HUMAN	Rho GTPase activating protein 33	173					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R173Q(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AATCACGGCCGGCGACTGCTC	0.592		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)											78	70	73			NA	NA	19		NA											NA				36271129		2203	4300	6503	SO:0001583	missense			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777	115703	115703		Rho GTPase activating proteins	23085	protein-coding gene	gene with protein product		614902	sorting nexin 26	SNX26	NA	12297274, 12461558	Standard	NM_052948	NM_052948	NA	Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000378944.5:c.110G>A	19.37:g.36271129G>A	ENSP00000368227:p.Arg37Gln	NA	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	37	CCDS54254.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590020	0.86851	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11930	3.08;2.73;3.15	4.84	3.8	0.43715	.	0.305936	0.23487	N	0.047642	T	0.21267	0.0512	L	0.49126	1.545	0.30529	N	0.767663	D;D	0.71674	0.998;0.974	P;P	0.58721	0.844;0.466	T	0.04537	-1.0944	10	0.54805	T	0.06	.	5.6018	0.17357	0.2761:0.0:0.7239:0.0	.	37;173	O14559-10;O14559-11	.;.	Q	173;173;37	ENSP00000007510:R173Q;ENSP00000320038:R173Q;ENSP00000368227:R37Q	ENSP00000007510:R173Q	R	+	2	0	ARHGAP33	40962969	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.552000	0.67281	2.227000	0.72691	0.561000	0.74099	CGG	ARHGAP33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459118.1		+	ENST00000378944.5	Missense_Mutation	SNP	19 : 36271129 - 36271129 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	544	5
ARHGAP4	393	broad.mit.edu	37	X	153187163	153187163	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:153187163C>T	ENST00000370028.3	-	2	224	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R56H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	56	FCH.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCAGCGCGGCGCCGCAT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	X		NA											NA				153187163		2187	4263	6450	SO:0001583	missense			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820	393	393		Rho GTPase activating proteins	674	protein-coding gene	gene with protein product	Rho-GAP hematopoietic protein C1	300023			NA	8570618	Standard	NM_001666	NM_001666	NA	Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000370028.3:c.167G>A	X.37:g.153187163C>T	ENSP00000359045:p.Arg56His	NA	Q14144	37	CCDS55540.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885319	0.51908	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.08	5.08	0.68730	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.41194	D	0.000933	T	0.64853	0.2636	L	0.60455	1.87	0.19775	N	0.99996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58702	-0.7590	10	0.87932	D	0	.	7.4388	0.27171	0.0:0.8068:0.0:0.1932	.	56;56	Q86UY3;P98171	.;RHG04_HUMAN	H	56;56;56;56;33;33;33	ENSP00000377322:R56H;ENSP00000359045:R56H;ENSP00000203786:R56H;ENSP00000359033:R56H;ENSP00000444169:R33H;ENSP00000398259:R33H;ENSP00000413782:R33H	ENSP00000203786:R56H	R	-	2	0	ARHGAP4	152840357	0.630000	0.27155	0.141000	0.22245	0.297000	0.27493	2.726000	0.47302	2.262000	0.75019	0.436000	0.28706	CGC	ARHGAP4-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061117.1		-	ENST00000370028.3	Missense_Mutation	SNP	X : 153187163 - 153187163 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	24	30
ATP4A	495	broad.mit.edu	37	19	36043993	36043993	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	899					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCTCCCACTGCGCCCGCAGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	89	90			NA	NA	19		NA											NA				36043993		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2697G>A	19.37:g.36043993C>T		NA	O00738	37	CCDS12467.1																																																																																			ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Silent	SNP	19 : 36043993 - 36043993 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	757	9
ATRNL1	26033	broad.mit.edu	37	10	117154220	117154220	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:117154220G>A	ENST00000355044.3	+	20	3353	c.3227G>A	c.(3226-3228)tGt>tAt	p.C1076Y	ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1076	Laminin EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAGGAAAATGTTTCTGCACA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	132	136			NA	NA	10		NA											NA				117154220		2203	4300	6503	SO:0001583	missense			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518	26033	26033			29063	protein-coding gene	gene with protein product		612869			NA	9628581	Standard	XM_049349	NM_001276282	NA	Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3227G>A	10.37:g.117154220G>A	ENSP00000347152:p.Cys1076Tyr	NA	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	37	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976281|3.976281	0.74360|0.74360	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.62105|.	0.05;0.05|.	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF-like, laminin (1);|.	0.087453|.	0.85682|.	D|.	0.000000|.	D|D	0.86531|0.86531	0.5955|0.5955	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.78314|.	0.991;0.991|.	D|D	0.89807|0.89807	0.3979|0.3979	10|5	0.87932|.	D|.	0|.	-20.6284|-20.6284	15.1377|15.1377	0.72583|0.72583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	127;1076|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	Y|I	1076;127|159	ENSP00000347152:C1076Y;ENSP00000409624:C127Y|.	ENSP00000347152:C1076Y|.	C|M	+|+	2|3	0|0	ATRNL1|ATRNL1	117144210|117144210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.632000|7.632000	0.83247|0.83247	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	TGT|ATG	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050507.3		+	ENST00000355044.3	Missense_Mutation	SNP	10 : 117154220 - 117154220 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	332	101
C20orf96	140680	broad.mit.edu	37	20	257686	257686	+	Splice_Site	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000400269.3_Splice_Site_p.A217V|C20orf96_ENST00000382369.5_Splice_Site_p.A240V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	135	130			NA	NA	20		NA											NA				257686		2203	4300	6503	SO:0001630	splice_region_variant			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476	140680	140680			16227	protein-coding gene	gene with protein product					NA		Standard	NM_153269	NM_153269	NA	Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.825+1C>T	20.37:g.257686G>A		NA	A3KPE0|B2RPH9|Q8N840|Q8NAX5	37	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	G	2.159	-0.392647	0.04899	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.40225	1.04;1.04;1.04	4.52	-5.41	0.02648	.	1.137630	0.06635	N	0.759972	T	0.10508	0.0257	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.20052	0.041;0.041;0.015;0.041	B;B;B;B	0.11329	0.006;0.006;0.003;0.006	T	0.28744	-1.0034	10	0.02654	T	1	-0.4171	4.6073	0.12383	0.2215:0.0:0.1966:0.5818	.	217;240;275;240	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	V	240;275;217	ENSP00000371806:A240V;ENSP00000353470:A275V;ENSP00000383128:A217V	ENSP00000353470:A275V	A	-	2	0	C20orf96	205686	0.002000	0.14202	0.026000	0.17262	0.173000	0.22820	-0.258000	0.08733	-0.734000	0.04843	0.313000	0.20887	GCG	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077439.2	Missense_Mutation	-	ENST00000360321.2	Splice_Site	SNP	20 : 257686 - 257686 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	981	7
CACNA1E	777	broad.mit.edu	37	1	181724500	181724500	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:181724500C>G	ENST00000526775.1	+	27	4064	c.3899C>G	c.(3898-3900)aCg>aGg	p.T1300R	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1319R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1319					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTTATTGCACGGACAGTTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	228	230			NA	NA	1		NA											NA				181724500		2095	4231	6326	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.3899C>G	1.37:g.181724500C>G	ENSP00000434814:p.Thr1300Arg	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707504	0.89018	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.982;0.998	D	0.99882	1.1115	10	0.87932	D	0	.	18.524	0.90965	0.0:1.0:0.0:0.0	.	1300;1319;1319	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1319;1300;1270;1251;926;1300;1319	ENSP00000356542:T1319R;ENSP00000434814:T1300R;ENSP00000350183:T1270R;ENSP00000351101:T1251R;ENSP00000356539:T926R;ENSP00000353222:T1300R;ENSP00000356545:T1319R	ENSP00000350183:T1270R	T	+	2	0	CACNA1E	179991123	1.000000	0.71417	0.934000	0.37439	0.977000	0.68977	7.676000	0.84012	2.468000	0.83385	0.650000	0.86243	ACG	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181724500 - 181724500 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	675	11
CADM4	199731	broad.mit.edu	37	19	44131875	44131875	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:44131875G>A	ENST00000222374.2	-	2	180	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	44	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGTGCAGACGGCAGGTGATCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	220	234			NA	NA	19		NA											NA				44131875		2203	4300	6503	SO:0001819	synonymous_variant			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767	199731	199731		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	30825	protein-coding gene	gene with protein product	nectin-like 4	609744	immunoglobulin superfamily, member 4C	IGSF4C	NA	11536053	Standard	NM_145296	NM_145296	NA	Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.132C>T	19.37:g.44131875G>A		NA	B2R7L5|Q9Y4A4	37	CCDS12627.1																																																																																			CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463352.1		-	ENST00000222374.2	Silent	SNP	19 : 44131875 - 44131875 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	996	7
CAMKK2	10645	broad.mit.edu	37	12	121698198	121698198	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:121698198G>A	ENST00000545538.1	-	1	147	c.81C>T	c.(79-81)ccC>ccT	p.P27P	CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000324774.5_Intron|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000392473.2_Intron|CAMKK2_ENST00000402834.4_Intron|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000337174.3_Intron			Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	0					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACGGATGGCGGGGGAGAAAA	0.552		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:0001819	synonymous_variant			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931	10645	10645			1470	protein-coding gene	gene with protein product		615002			NA	9662074	Standard	NM_172226	NM_172226	NA	Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000545538.1:c.81C>T	12.37:g.121698198G>A		NA	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	37																																																																																				CAMKK2-012	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000402564.1		-	ENST00000545538.1	Silent	SNP	12 : 121698198 - 121698198 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	79	23
CAND2	23066	broad.mit.edu	37	3	12858310	12858310	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:12858310C>T	ENST00000456430.2	+	10	1920	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	627					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R534W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGATCACCCGGCTGCCCGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(43;676 868 1633 6395 37496)							NA				1	Substitution - Missense(1)	large_intestine(1)											67	76	73			NA	NA	3		NA											NA				12858310		2100	4217	6317	SO:0001583	missense				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712	23066	23066			30689	protein-coding gene	gene with protein product	TBP interacting protein	610403			NA	9734811, 10441524	Standard	XM_371617	NM_012298	NA	Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1879C>T	3.37:g.12858310C>T	ENSP00000387641:p.Arg627Trp	NA	B9EGM9	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386485	0.61956	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.82	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.068282	0.56097	D	0.000033	D	0.87884	0.6290	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.91089	0.4905	10	0.87932	D	0	-35.2501	15.7833	0.78281	0.0:1.0:0.0:0.0	.	627;534	O75155;O75155-2	CAND2_HUMAN;.	W	534;627	ENSP00000295989:R534W;ENSP00000387641:R627W	ENSP00000295989:R534W	R	+	1	2	CAND2	12833310	0.317000	0.24589	1.000000	0.80357	0.837000	0.47467	0.913000	0.28611	2.395000	0.81488	0.561000	0.74099	CGG	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339856.4		+	ENST00000456430.2	Missense_Mutation	SNP	3 : 12858310 - 12858310 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	709	12
CBFA2T2	9139	broad.mit.edu	37	20	32232202	32232202	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:32232202A>T	ENST00000492345.1	+	13	2163	c.1478A>T	c.(1477-1479)aAt>aTt	p.N493I	CBFA2T2_ENST00000346541.3_Missense_Mutation_p.N522I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N513I			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	522						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGTGGCTGCAATATCGCGCGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(174;142 1955 14837 21276 28041)							NA				0													75	71	73			NA	NA	20		NA											NA				32232202		2203	4300	6503	SO:0001583	missense			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699	9139	9139		Zinc fingers, MYND-type	1536	protein-coding gene	gene with protein product		603672			NA	9790752	Standard	NM_001032999	XM_006723886	NA	Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000492345.1:c.1478A>T	20.37:g.32232202A>T	ENSP00000433270:p.Asn493Ile	NA	B2RAE6|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	37		.	.	.	.	.	.	.	.	.	.	A	31	5.091645	0.94149	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.51325	0.71;0.72;0.71;0.72;1.3	5.79	5.79	0.91817	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74518	-0.3639	10	0.87932	D	0	-4.7166	16.1193	0.81336	1.0:0.0:0.0:0.0	.	522;513	O43439;F8W6D7	MTG8R_HUMAN;.	I	296;522;513;522;493;532;70	ENSP00000364428:N522I;ENSP00000345810:N513I;ENSP00000262653:N522I;ENSP00000380902:N493I;ENSP00000352622:N532I	ENSP00000345810:N513I	N	+	2	0	CBFA2T2	31695863	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	AAT	CBFA2T2-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000078709.3		+	ENST00000492345.1	Missense_Mutation	SNP	20 : 32232202 - 32232202 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	551	141
CCDC147	0	broad.mit.edu	37	10	106118265	106118265	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:106118265G>A	ENST00000369704.3	+	2	310	c.176G>A	c.(175-177)cGt>cAt	p.R59H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		59										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AATGAAAAGCGTCTGATGGCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	71	74			NA	NA	10		NA											NA				106118265		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000369704.3:c.176G>A	10.37:g.106118265G>A	ENSP00000358718:p.Arg59His	NA	D3DRA6|Q8NA27	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288041	0.80803	.	.	ENSG00000120051	ENST00000369704	T	0.37058	1.22	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.91090	3.175	0.80722	D	1	P	0.46020	0.871	B	0.42214	0.38	T	0.62718	-0.6795	10	0.52906	T	0.07	-6.117	15.0736	0.72059	0.0699:0.0:0.9301:0.0	.	59	Q5T655	CC147_HUMAN	H	59	ENSP00000358718:R59H	ENSP00000358718:R59H	R	+	2	0	CCDC147	106108255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.732000	0.74790	2.785000	0.95823	0.655000	0.94253	CGT	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050216.1		+	ENST00000369704.3	Missense_Mutation	SNP	10 : 106118265 - 106118265 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	365	31
CCDC180	100499483	broad.mit.edu	37	9	100132333	100132333	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:100132333A>G	ENST00000529487.1	+	32	4548	c.4451A>G	c.(4450-4452)gAg>gGg	p.E1484G	CCDC180_ENST00000357054.1_Missense_Mutation_p.E1429G|CCDC180_ENST00000375202.2_Missense_Mutation_p.E1484G|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR	NM_020893.2	NP_065944.2			coiled-coil domain containing 180	NA											NA						GGACAGTTCGAGGAACAGCAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	47	46			NA	NA	9		NA											NA				100132333		2203	4300	6503	SO:0001583	missense			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816	100499483	100499483			29303	protein-coding gene	gene with protein product	Behcet's Disease Associated Gene 1		KIAA1529, chromosome 9 open reading frame 174	KIAA1529, C9orf174	NA	10819331	Standard	NM_020893	NM_020893	NA	Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000529487.1:c.4451A>G	9.37:g.100132333A>G	ENSP00000434727:p.Glu1484Gly	NA		37	CCDS35077.2	.	.	.	.	.	.	.	.	.	.	A	8.083	0.772887	0.16051	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.52295	0.67;0.67;0.67	5.31	-0.88	0.10610	.	1.068760	0.07166	N	0.851602	T	0.36744	0.0978	L	0.44542	1.39	0.09310	N	1	B;P	0.44816	0.131;0.844	B;B	0.42798	0.062;0.398	T	0.22556	-1.0213	10	0.23302	T	0.38	0.1363	4.1976	0.10450	0.4657:0.0:0.0953:0.439	.	1623;1429	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	G	1429;1484;1484	ENSP00000349562:E1429G;ENSP00000364348:E1484G;ENSP00000434727:E1484G	ENSP00000349562:E1429G	E	+	2	0	C9orf174	99172154	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.211000	0.09332	-0.311000	0.08754	0.533000	0.62120	GAG	CCDC180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383515.2		+	ENST00000529487.1	Missense_Mutation	SNP	9 : 100132333 - 100132333 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	176	52
CD33	945	broad.mit.edu	37	19	51728379	51728379	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:51728379C>T	ENST00000436584.2	+	1	60	c.5C>T	c.(4-6)cCg>cTg	p.P2L	CD33_ENST00000391796.3_Missense_Mutation_p.P2L|CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000262262.4_Missense_Mutation_p.P2L			P20138	CD33_HUMAN	CD33 molecule	2					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCAGACATGCCGCTGCTGCTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	36			NA	NA	19		NA											NA				51728379		2203	4300	6503	SO:0001583	missense			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383	945	945		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1659	protein-coding gene	gene with protein product	sialic acid binding Ig-like lectin 3	159590	CD33 antigen (gp67)		NA	3139766, 9465907	Standard	NM_001772	NM_001772	NA	Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000436584.2:c.5C>T	19.37:g.51728379C>T	ENSP00000403331:p.Pro2Leu	NA	Q8TD24	37		.	.	.	.	.	.	.	.	.	.	.	5.629	0.300790	0.10678	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.39592	1.07;2.53;1.38;2.41	3.75	-4.49	0.03504	.	.	.	.	.	T	0.11793	0.0287	N	0.02192	-0.645	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28106	-1.0054	9	0.02654	T	1	.	5.3402	0.15979	0.0:0.2105:0.3616:0.4279	.	2;2;2	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	L	2	ENSP00000403331:P2L;ENSP00000262262:P2L;ENSP00000410126:P2L;ENSP00000375673:P2L	ENSP00000262262:P2L	P	+	2	0	CD33	56420191	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.283000	0.01155	-1.134000	0.02899	-1.099000	0.02127	CCG	CD33-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000464197.1		+	ENST00000436584.2	Missense_Mutation	SNP	19 : 51728379 - 51728379 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	268	28
CDH4	1002	broad.mit.edu	37	20	60448850	60448850	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:60448850G>A	ENST00000360469.5	+	7	1032	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGATGGTGCGGTACCGGATC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4406		0,0,2203	163	127	139		944	4	1	20		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH4	NM_001794.2	43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	315/917	60448850	1,13005	2203	4300	6503	SO:0001583	missense			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242	1002	1002		Cadherins / Major cadherins	1763	protein-coding gene	gene with protein product	R-Cadherin	603006			NA	10191097, 10516427	Standard	NM_001794	NM_001794	NA	Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.944G>A	20.37:g.60448850G>A	ENSP00000353656:p.Arg315Gln	NA	Q2M208|Q5VZ44|Q9BZ05	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949030	0.73787	0.0	1.16E-4	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	4.92	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.45816	0.1361	L	0.58354	1.805	0.36334	D	0.859075	D	0.53745	0.962	P	0.46208	0.507	T	0.54886	-0.8226	9	.	.	.	.	8.4155	0.32668	0.0789:0.0:0.7685:0.1527	.	315	P55283	CADH4_HUMAN	Q	315;223;241	ENSP00000353656:R315Q;ENSP00000443301:R241Q	.	R	+	2	0	CDH4	59882245	1.000000	0.71417	0.967000	0.41034	0.735000	0.41995	6.559000	0.73946	1.068000	0.40764	0.585000	0.79938	CGG	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079965.2		+	ENST00000360469.5	Missense_Mutation	SNP	20 : 60448850 - 60448850 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	601	5
CDHR2	54825	broad.mit.edu	37	5	176008451	176008451	+	Silent	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176008451C>G	ENST00000510636.1	+	17	2200	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	CDHR2_ENST00000261944.5_Silent_p.L642L|CDHR2_ENST00000506348.1_Silent_p.L642L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	642	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGGGCTCCTCAGAAACCTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	53	53			NA	NA	5		NA											NA				176008451		2203	4300	6503	SO:0001819	synonymous_variant			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276	54825	54825		Cadherins / Cadherin-related	18231	protein-coding gene	gene with protein product	protocadherin LKC		protocadherin 24	PCDH24	NA	11082270, 12117771	Standard	NM_017675	NM_001171976	NA	Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1926C>G	5.37:g.176008451C>G		NA	A6NC80|Q9NXP8	37	CCDS34297.1																																																																																			CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372201.1		+	ENST00000510636.1	Silent	SNP	5 : 176008451 - 176008451 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	257	4
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:21971111G>A	ENST00000479692.2	-	2	108	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			L -> P (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385						12	15	14			NA	NA	9		NA											NA				21971111		2176	4259	6435	SO:0001583	missense			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.94C>T	9.37:g.21971111G>A	ENSP00000466887:p.His32Tyr	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Missense_Mutation	SNP	9 : 21971111 - 21971111 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	167	73
CELF3	11189	broad.mit.edu	37	1	151680404	151680404	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:151680404G>A	ENST00000290583.4	-	6	1287	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.S165L|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	165	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CAGGCTGGACGAGGCACCCTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	40	43			NA	NA	1		NA											NA				151680404		2203	4300	6503	SO:0001583	missense			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409	11189	11189		Trinucleotide (CAG) repeat containing, RNA binding motif (RRM) containing	11967	protein-coding gene	gene with protein product	expanded repeat domain, CAG/CTG 4, CAG repeat domain, CUG-BP and ETR-3 like factor 3	612678	trinucleotide repeat containing 4	TNRC4	NA	9225980	Standard	NM_007185	XM_005244859	NA	Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.494C>T	1.37:g.151680404G>A	ENSP00000290583:p.Ser165Leu	NA	B7ZKK6|O15414|Q499Y6|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.9|24.9	4.582586|4.582586	0.86748|0.86748	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.06449	.|3.3;3.3	3.75|3.75	3.75|3.75	0.43078|0.43078	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.10165|0.10165	0.0249|0.0249	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.999;0.998	.|P;D;D;P;P	.|0.64877	.|0.834;0.93;0.918;0.887;0.819	T|T	0.04078|0.04078	-1.0979|-1.0979	5|10	.|0.87932	.|D	.|0	-4.7861|-4.7861	14.6626|14.6626	0.68882|0.68882	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|165;165;164;165;164	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	C|L	166|165;165;164	.|ENSP00000290585:S165L;ENSP00000290583:S165L	.|ENSP00000290583:S165L	R|S	-|-	1|2	0|0	CELF3|CELF3	149947028|149947028	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.999000|0.999000	0.98932|0.98932	9.566000|9.566000	0.98157|0.98157	2.098000|2.098000	0.63641|0.63641	0.655000|0.655000	0.94253|0.94253	CGT|TCG	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036663.2		-	ENST00000290583.4	Missense_Mutation	SNP	1 : 151680404 - 151680404 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	214	47
CEP63	80254	broad.mit.edu	37	3	134278028	134278028	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278028G>T	ENST00000337090.3	+	14	1883	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	570					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGGAATAAAGACTGAGCACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	135	135			NA	NA	3		NA											NA				134278028		2203	4300	6503	SO:0001583	missense			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923	80254	80254			25815	protein-coding gene	gene with protein product		614724			NA	14654843, 24240477	Standard	NM_025180	NM_001042383	NA	Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1710G>T	3.37:g.134278028G>T	ENSP00000336524:p.Lys570Asn	NA	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	37	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944889	0.34283	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18338	2.22;2.22	4.77	3.89	0.44902	.	0.724271	0.12624	N	0.452796	T	0.17238	0.0414	L	0.44542	1.39	0.32265	N	0.569604	P	0.44429	0.835	P	0.44990	0.466	T	0.02339	-1.1174	10	0.25751	T	0.34	-11.6316	8.2011	0.31426	0.1056:0.0:0.8944:0.0	.	570	Q96MT8	CEP63_HUMAN	N	570	ENSP00000336524:K570N;ENSP00000426129:K570N	ENSP00000336524:K570N	K	+	3	2	CEP63	135760718	1.000000	0.71417	0.880000	0.34516	0.885000	0.51271	1.319000	0.33655	2.611000	0.88343	0.650000	0.86243	AAG	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470139.1		+	ENST00000337090.3	Missense_Mutation	SNP	3 : 134278028 - 134278028 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	635	187
CEP63	80254	broad.mit.edu	37	3	134278030	134278030	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278030C>T	ENST00000337090.3	+	14	1885	c.1712C>T	c.(1711-1713)aCt>aTt	p.T571I	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	571					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAATAAAGACTGAGCACTAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	137	137			NA	NA	3		NA											NA				134278030		2203	4300	6503	SO:0001583	missense			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923	80254	80254			25815	protein-coding gene	gene with protein product		614724			NA	14654843, 24240477	Standard	NM_025180	NM_001042383	NA	Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1712C>T	3.37:g.134278030C>T	ENSP00000336524:p.Thr571Ile	NA	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	37	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353755	0.11182	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18174	2.23;2.23	4.77	2.93	0.34026	.	1.163120	0.06370	N	0.713479	T	0.16769	0.0403	L	0.47716	1.5	0.25605	N	0.986555	B	0.06786	0.001	B	0.09377	0.004	T	0.29549	-1.0008	10	0.35671	T	0.21	-0.0211	6.73	0.23379	0.0:0.7252:0.1782:0.0966	.	571	Q96MT8	CEP63_HUMAN	I	571	ENSP00000336524:T571I;ENSP00000426129:T571I	ENSP00000336524:T571I	T	+	2	0	CEP63	135760720	1.000000	0.71417	0.646000	0.29493	0.835000	0.47333	0.453000	0.21811	0.677000	0.31305	-0.143000	0.13931	ACT	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470139.1		+	ENST00000337090.3	Missense_Mutation	SNP	3 : 134278030 - 134278030 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	640	189
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	133	133			NA	NA	5		NA											NA				633946		2203	4300	6503	SO:0001583	missense			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877	55722	55722			25547	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_018140	NM_018140	NA	Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.575C>T	5.37:g.633946C>T	ENSP00000264935:p.Ala192Val	NA	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455	0.854063	0.17106	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.14	2.14	0.27477	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	0.023000	0.18921	0.021000	0.16686	0.247000	0.25773	0.787000	0.26858	0.650000	0.30769	-0.355000	0.07637	GCG	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365967.3		+	ENST00000264935.5	Missense_Mutation	SNP	5 : 633946 - 633946 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1020	8
CES1	1066	broad.mit.edu	37	16	55862732	55862732	+	Silent	SNP	C	C	T	rs145950149		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:55862732C>T	ENST00000422046.2	-	2	485	c.204G>A	c.(202-204)ccG>ccA	p.P68P	CES1_ENST00000360526.3_Silent_p.P69P|CES1_ENST00000361503.4_Silent_p.P68P			P23141	EST1_HUMAN	carboxylesterase 1	68					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				NA				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGCAGGCTGCGGTGGAGTAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(162;1801 2756 42904 52896)							NA				0								C	,,	0,4396		0,0,2198	106	105	105		204,207,204	-6.1	0.6	16	dbSNP_134	105	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6496	TT,TC,CC	NA	0.0233,0.0,0.0154	,,	68/568,69/569,68/567	55862732	2,12994	2198	4300	6498	SO:0001819	synonymous_variant			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	1066	1066	3.1.1.1	Carboxylesterases	1863	protein-coding gene	gene with protein product	human monocyte/macrophage serine esterase 1	114835	carboxylesterase 1 (monocyte/macrophage serine esterase 1)		NA	2070086, 20931200	Standard	NM_001266	XM_005255774	NA	Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000422046.2:c.204G>A	16.37:g.55862732C>T		NA	A6NIM1|A8K3K8|A8K844|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	37	CCDS45489.1																																																																																			CES1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433283.1		-	ENST00000422046.2	Silent	SNP	16 : 55862732 - 55862732 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	371	70
CES3	23491	broad.mit.edu	37	16	67006386	67006386	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67006386C>T	ENST00000543856.1	+	4	782	c.336C>T	c.(334-336)ctC>ctT	p.L112L	CES3_ENST00000303334.4_Silent_p.L473L|CES3_ENST00000394037.1_Silent_p.L473L	NM_001185176.1	NP_001172105.1	Q6UWW8	EST3_HUMAN	carboxylesterase 3	473						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTCCCTTCCTCATGGACGAGA	0.592		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	9e-04	SNP								NA				0													129	126	127			NA	NA	16		NA											NA				67006386		2200	4300	6500	SO:0001819	synonymous_variant			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828	23491	23491		Carboxylesterases	1865	protein-coding gene	gene with protein product	esterase 31, brain carboxylesterase BR3	605279	carboxylesterase 3 (brain)		NA	10518925, 14581373, 15100172, 20931200	Standard	NM_024922	NM_001185176	NA	Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000543856.1:c.336C>T	16.37:g.67006386C>T		NA	B2Z3W9|Q7Z6J1	37	CCDS54023.1																																																																																			CES3-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431986.1		+	ENST00000543856.1	Silent	SNP	16 : 67006386 - 67006386 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	575	12
CHD3	1107	broad.mit.edu	37	17	7797171	7797171	+	Missense_Mutation	SNP	G	G	A	rs139173826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7797171G>A	ENST00000380358.4	+	6	1020	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CHD3_ENST00000330494.7_Missense_Mutation_p.R281H|CHD3_ENST00000358181.4_Missense_Mutation_p.R281H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	281					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTGATGGACGCAAGAAGCTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	137	132	134		1019,842,842	5.3	1	17	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	29,29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	340/2060,281/2001,281/1967	7797171	1,13005	2203	4300	6503	SO:0001583	missense			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.1019G>A	17.37:g.7797171G>A	ENSP00000369716:p.Arg340His	NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571999	0.28092	0.0	1.16E-4	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.63;-2.62	5.29	5.29	0.74685	.	0.000000	0.44688	D	0.000423	T	0.80529	0.4640	N	0.22421	0.69	0.34035	D	0.654297	P;P;P	0.46220	0.871;0.874;0.874	B;B;B	0.35550	0.205;0.101;0.145	D	0.85691	0.1307	10	0.62326	D	0.03	-6.0171	7.7325	0.28796	0.0868:0.1663:0.7469:0.0	.	281;281;340	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	340;281;281	ENSP00000369716:R340H;ENSP00000350907:R281H;ENSP00000332628:R281H	ENSP00000332628:R281H	R	+	2	0	CHD3	7737896	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.600000	0.36762	2.480000	0.83734	0.650000	0.86243	CGC	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Missense_Mutation	SNP	17 : 7797171 - 7797171 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	639	6
CLINT1	9685	broad.mit.edu	37	5	157232960	157232960	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:157232960C>G	ENST00000523094.1	-	7	1007	c.802G>C	c.(802-804)Gat>Cat	p.D268H	CLINT1_ENST00000411809.2_Missense_Mutation_p.D286H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H|CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H|CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	286					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCAAGATCAATGGTTTTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(22;427 587 2170 6147 14291)							NA				0													273	274	274			NA	NA	5		NA											NA				157232960		2139	4239	6378	SO:0001583	missense			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282	9685	9685			23186	protein-coding gene	gene with protein product		607265			NA	12213833, 12429846	Standard	NM_014666	NM_014666	NA	Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000523094.1:c.802G>C	5.37:g.157232960C>G	ENSP00000429345:p.Asp268His	NA	D3DQJ6|Q8NAF1|Q96E05	37	CCDS56388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.742679|4.742679	0.89573|0.89573	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.61040|.	0.14;0.14;0.25;0.14;0.22|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75591|.	0.3870|.	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.73238|.	-0.4046|.	10|.	0.72032|.	D|.	0.01|.	-18.413|-18.413	19.6818|19.6818	0.95967|0.95967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	286;286|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	H|S	268;268;286;268;286|2	ENSP00000429345:D268H;ENSP00000433419:D268H;ENSP00000388340:D286H;ENSP00000296951:D268H;ENSP00000429824:D286H|.	ENSP00000296951:D268H|.	D|X	-|-	1|2	0|2	CLINT1|CLINT1	157165538|157165538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.786000|7.786000	0.85741|0.85741	2.656000|2.656000	0.90262|0.90262	0.557000|0.557000	0.71058|0.71058	GAT|TGA	CLINT1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374003.1		-	ENST00000523094.1	Missense_Mutation	SNP	5 : 157232960 - 157232960 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	322	7
CR1	1378	broad.mit.edu	37	1	207790017	207790017	+	Silent	SNP	C	C	T	rs55775404		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367051.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1803					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	137	139			NA	NA	1		NA											NA				207790017		1924	4129	6053	SO:0001819	synonymous_variant			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710	1378	1378		CD molecules, Blood group antigens, Complement system	2334	protein-coding gene	gene with protein product		120620	complement component (3b/4b) receptor 1, including Knops blood group system		NA	1708809	Standard	NM_000573	XM_005273064	NA	Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6759C>T	1.37:g.207790017C>T		NA	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342195	0.01277	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.15	-1.35	0.09114	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.0389	0.30511	0.0:0.5164:0.0:0.4836	rs55775404	.	.	.	V	426	.	.	A	+	2	0	CR1	205856640	0.319000	0.24607	0.014000	0.15608	0.037000	0.13140	-0.190000	0.09615	-0.233000	0.09797	-0.320000	0.08662	GCG	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382527.1		+	ENST00000367049.4	Silent	SNP	1 : 207790017 - 207790017 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	684	6
CRYBB1	1414	broad.mit.edu	37	22	27003917	27003917	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:27003917C>T	ENST00000215939.2	-	4	498	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	123	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGTGTTCCAGCGAGGGTACTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	74	82			NA	NA	22		NA											NA				27003917		2203	4300	6503	SO:0001583	missense				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122	1414	1414			2397	protein-coding gene	gene with protein product		600929			NA	8575764, 12360425	Standard	NM_001887	NM_001887	NA	Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.368G>A	22.37:g.27003917C>T	ENSP00000215939:p.Arg123His	NA		37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582400	0.86748	.	.	ENSG00000100122	ENST00000215939	T	0.76060	-0.99	4.4	3.36	0.38483	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.105598	0.64402	D	0.000003	T	0.82157	0.4976	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83373	0.0008	10	0.66056	D	0.02	.	13.3936	0.60836	0.0:0.8408:0.1592:0.0	.	123	P53674	CRBB1_HUMAN	H	123	ENSP00000215939:R123H	ENSP00000215939:R123H	R	-	2	0	CRYBB1	25333917	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.906000	0.48735	1.041000	0.40125	0.585000	0.79938	CGC	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320767.1		-	ENST00000215939.2	Missense_Mutation	SNP	22 : 27003917 - 27003917 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	305	58
CTNNA2	1496	broad.mit.edu	37	2	80529763	80529763	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:80529763G>A	ENST00000402739.4	+	7	1061				LRRTM1_ENST00000409148.1_Silent_p.L394L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000295057.3_Silent_p.L394L|CTNNA2_ENST00000466387.1_Intron	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	NA					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCCGTCCGCGAGCGTGGTGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	19			NA	NA	2		NA											NA				80529763		2186	4273	6459	SO:0001627	intron_variant				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1057-90573G>A	2.37:g.80529763G>A		NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37																																																																																				CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Intron	SNP	2 : 80529763 - 80529763 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	224	7
CXCR1	3577	broad.mit.edu	37	2	219029099	219029099	+	Missense_Mutation	SNP	C	C	T	rs56030518		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:219029099C>T	ENST00000295683.2	-	2	956	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	279					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GTTGTTGCGGCGCTCACAGCT	0.572		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	0.0021	SNP								NA				0								C	HIS/ARG	0,4406		0,0,2203	76	74	75		836	3.9	1	2	dbSNP_129	75	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CXCR1	NM_000634.2	29	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging	279/351	219029099	3,13003	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.836G>A	2.37:g.219029099C>T	ENSP00000295683:p.Arg279His	NA	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	37	CCDS2409.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.25	2.778988	0.49891	0.0	3.49E-4	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.71934	-0.61	4.89	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.392430	0.28482	N	0.015186	T	0.65923	0.2738	M	0.62154	1.92	0.31690	N	0.641996	P	0.40083	0.702	B	0.37780	0.258	T	0.72276	-0.4341	10	0.33940	T	0.23	.	13.1692	0.59589	0.1603:0.8397:0.0:0.0	rs56030518	279	P25024	CXCR1_HUMAN	H	279;223	ENSP00000295683:R279H	ENSP00000295683:R279H	R	-	2	0	CXCR1	218737344	0.005000	0.15991	0.967000	0.41034	0.149000	0.21700	1.489000	0.35562	2.406000	0.81754	0.561000	0.74099	CGC	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256773.2		-	ENST00000295683.2	Missense_Mutation	SNP	2 : 219029099 - 219029099 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	463	123
CYP2A6	1548	broad.mit.edu	37	19	41351245	41351245	+	Missense_Mutation	SNP	C	C	T	rs145036049	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41351245C>T	ENST00000301141.5	-	7	1135	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	372					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TTTGACTCTGCGGGCCAAACT	0.572		NA											-	1	5e-04	0.002	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	6e-04	0.764	LOWCOV	NA	NA	0.0052	SNP								NA				0								C	HIS/ARG	1,4405		0,1,2202	118	114	116		1115	0.6	0.1	19	dbSNP_134	116	0,8600		0,0,4300	no	missense	CYP2A6	NM_000762.5	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	372/495	41351245	1,13005	2203	4300	6503	SO:0001583	missense			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974	1548	1548		Cytochrome P450s	2610	protein-coding gene	gene with protein product		122720	cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6	CYP2A3	NA	7668294, 2748347	Standard	NM_000762	NM_000762	NA	Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1115G>A	19.37:g.41351245C>T	ENSP00000301141:p.Arg372His	NA	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	37	CCDS12568.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	0.014	-1.595383	0.00857	2.27E-4	0.0	ENSG00000255974	ENST00000301141	T	0.77877	-1.13	2.76	0.567	0.17325	.	0.199062	0.42821	N	0.000649	T	0.50871	0.1641	N	0.02973	-0.45	0.09310	N	1	B;B	0.32693	0.105;0.38	B;B	0.43413	0.046;0.419	T	0.55885	-0.8070	10	0.02654	T	1	.	4.58	0.12253	0.0:0.4325:0.0:0.5675	.	372;372	Q13120;P11509	.;CP2A6_HUMAN	H	372	ENSP00000301141:R372H	ENSP00000301141:R372H	R	-	2	0	CYP2A6	46043085	0.000000	0.05858	0.056000	0.19401	0.181000	0.23173	-1.136000	0.03222	0.446000	0.26666	0.379000	0.24179	CGC	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463259.1		-	ENST00000301141.5	Missense_Mutation	SNP	19 : 41351245 - 41351245 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	762	6
CYP2C8	1558	broad.mit.edu	37	10	96802653	96802653	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:96802653G>T	ENST00000371270.3	-	7	1237	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	CYP2C8_ENST00000539050.1_Silent_p.I295I|CYP2C8_ENST00000535898.1_Silent_p.I279I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	381					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	164	170			NA	NA	10		NA											NA				96802653		2203	4300	6503	SO:0001819	synonymous_variant			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115	1558	1558		Cytochrome P450s	2622	protein-coding gene	gene with protein product		601129	cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8		NA	7841444	Standard	NM_000770	NM_001198853	NA	Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1143C>A	10.37:g.96802653G>T		NA	A8K9N8|B0AZN2|Q5VX93|Q8WWB1|Q9UCZ9	37	CCDS7438.1																																																																																			CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049499.2		-	ENST00000371270.3	Silent	SNP	10 : 96802653 - 96802653 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	406	14
DDC	1644	broad.mit.edu	37	7	50595897	50595897	+	Missense_Mutation	SNP	G	G	C	rs150760434		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:50595897G>C	ENST00000426377.1	-	4	486	c.418C>G	c.(418-420)Cgt>Ggt	p.R140G	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.R218G|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.R218G|DDC_ENST00000444124.2_Missense_Mutation_p.R218G	NM_001242888.1	NP_001229817	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	218	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGACGCACGCATGGCGAAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	98	98			NA	NA	7		NA											NA				50595897		2203	4300	6503	SO:0001583	missense				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	1644	1644	4.1.1.28		2719	protein-coding gene	gene with protein product		107930			NA	1612608	Standard		NM_001082971	NA	Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000426377.1:c.418C>G	7.37:g.50595897G>C	ENSP00000395069:p.Arg140Gly	NA	Q16723|Q75MJ6	37	CCDS56485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.186512|3.186512	0.57909|0.57909	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13	6.06|6.06	4.2|4.2	0.49525|0.49525	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.102551	.|0.64402	.|D	.|0.000006	T|T	0.65186|0.65186	0.2667|0.2667	H|H	0.95187|0.95187	3.635|3.635	0.48632|0.48632	D|D	0.999681|0.999681	.|B;B	.|0.33103	.|0.397;0.397	.|B;B	.|0.43251	.|0.413;0.413	T|T	0.71807|0.71807	-0.4481|-0.4481	5|10	.|0.87932	.|D	.|0	-7.8105|-7.8105	14.373|14.373	0.66854|0.66854	0.0:0.0:0.7221:0.2779|0.0:0.0:0.7221:0.2779	.|.	.|218;218	.|Q53Y41;P20711	.|.;DDC_HUMAN	W|G	98|218;140;218;218	.|ENSP00000350616:R218G;ENSP00000395069:R140G;ENSP00000403644:R218G;ENSP00000370371:R218G	.|ENSP00000350616:R218G	C|R	-|-	3|1	2|0	DDC|DDC	50563391|50563391	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.564000|0.564000	0.35744|0.35744	1.378000|1.378000	0.34328|0.34328	0.826000|0.826000	0.34661|0.34661	0.650000|0.650000	0.86243|0.86243	TGC|CGT	DDC-013	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342604.1		-	ENST00000426377.1	Missense_Mutation	SNP	7 : 50595897 - 50595897 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	581	142
DGCR8	54487	broad.mit.edu	37	22	20096497	20096497	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:20096497G>A	ENST00000351989.3	+	13	2638	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	737	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAAGCTCCAAGAGGAGATGAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	120	131			NA	NA	22		NA											NA				20096497		2203	4300	6503	SO:0001583	missense			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191	54487	54487			2847	protein-coding gene	gene with protein product		609030	chromosome 22 open reading frame 12, DiGeorge syndrome critical region gene 8	C22orf12	NA	21454614	Standard		NM_001190326	NA	Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.2209G>A	22.37:g.20096497G>A	ENSP00000263209:p.Glu737Lys	NA	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181797	0.94885	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33216	1.42;1.51;1.51	5.22	5.22	0.72569	.	0.048942	0.85682	D	0.000000	T	0.45115	0.1326	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.76071	0.987;0.824	T	0.21314	-1.0249	10	0.33141	T	0.24	-10.5121	17.5395	0.87843	0.0:0.0:1.0:0.0	.	704;737	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	737;704;704	ENSP00000263209:E737K;ENSP00000372488:E704K;ENSP00000384726:E704K	ENSP00000263209:E737K	E	+	1	0	DGCR8	18476497	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.096000	0.94182	2.428000	0.82296	0.462000	0.41574	GAG	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318654.1		+	ENST00000351989.3	Missense_Mutation	SNP	22 : 20096497 - 20096497 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	351	9
DGKQ	1609	broad.mit.edu	37	4	954958	954958	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:954958A>G	ENST00000273814.3	-	22	2679	c.2606T>C	c.(2605-2607)aTc>aCc	p.I869T		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	869					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAATCCGGATTCCGGAGCG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(17;537 645 4447 26373)							NA				0													27	34	31			NA	NA	4		NA											NA				954958		2193	4298	6491	SO:0001583	missense			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214	1609	1609			2856	protein-coding gene	gene with protein product		601207	diacylglycerol kinase, theta (110kD)	DAGK4	NA	8617502, 9099683	Standard		NM_001347	NA	Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2606T>C	4.37:g.954958A>G	ENSP00000273814:p.Ile869Thr	NA	Q6P3W4	37	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.63|17.63	3.437655|3.437655	0.62955|0.62955	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814;ENST00000515182|ENST00000509465	T;T|.	0.47177|.	0.85;0.85|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Diacylglycerol kinase, accessory domain (2);|.	0.049071|.	0.85682|.	D|.	0.000000|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.39633|0.39633	1.23|1.23	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.77557|.	0.967;0.99|.	T|T	0.55062|0.55062	-0.8199|-0.8199	10|5	0.44086|.	T|.	0.13|.	.|.	13.1628|13.1628	0.59554|0.59554	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	869;869|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	T|P	869;84|803	ENSP00000273814:I869T;ENSP00000421756:I84T|.	ENSP00000273814:I869T|.	I|S	-|-	2|1	0|0	DGKQ|DGKQ	944958|944958	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	5.430000|5.430000	0.66501|0.66501	2.008000|2.008000	0.58898|0.58898	0.454000|0.454000	0.30748|0.30748	ATC|TCC	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000200888.1		-	ENST00000273814.3	Missense_Mutation	SNP	4 : 954958 - 954958 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	225	38
DNAH10	196385	broad.mit.edu	37	12	124332557	124332557	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:124332557G>A	ENST00000409039.3	+	32	5535	c.5510G>A	c.(5509-5511)gGc>gAc	p.G1837D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1837	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGGAACCGGCAAAACCGAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	102	100			NA	NA	12		NA											NA				124332557		1975	4178	6153	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5510G>A	12.37:g.124332557G>A	ENSP00000386770:p.Gly1837Asp	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201809	0.79015	.	.	ENSG00000197653	ENST00000409039	D	0.92099	-2.97	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	D	0.98043	0.9355	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99441	1.0938	10	0.87932	D	0	.	19.4428	0.94827	0.0:0.0:1.0:0.0	.	1837	Q8IVF4	DYH10_HUMAN	D	1837	ENSP00000386770:G1837D	ENSP00000386770:G1837D	G	+	2	0	DNAH10	122898510	1.000000	0.71417	0.998000	0.56505	0.218000	0.24690	9.853000	0.99521	2.598000	0.87819	0.555000	0.69702	GGC	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124332557 - 124332557 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	728	7
EGFLAM	133584	broad.mit.edu	37	5	38370412	38370412	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:38370412A>T	ENST00000322350.5	+	6	906	c.560A>T	c.(559-561)aAg>aTg	p.K187M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.K187M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	187	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATTTCGACAAGAAGTGGACC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(62;485 1295 3347 17454)							NA				0													89	86	87			NA	NA	5		NA											NA				38370412		2203	4300	6503	SO:0001583	missense			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318	133584	133584		Fibronectin type III domain containing	26810	protein-coding gene	gene with protein product	pikachurin, agrin-like				NA	18641643, 20078962, 22760553	Standard	NM_152403	NM_182801	NA	Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000322350.5:c.560A>T	5.37:g.38370412A>T	ENSP00000313084:p.Lys187Met	NA	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	37	CCDS3924.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479053	0.26511	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57595	0.39;0.39	5.82	0.571	0.17352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.578369	0.20260	N	0.095883	T	0.31071	0.0785	N	0.17922	0.545	0.45515	D	0.998477	B;B	0.18461	0.014;0.028	B;B	0.13407	0.009;0.008	T	0.06770	-1.0808	10	0.45353	T	0.12	-9.2271	5.5891	0.17291	0.325:0.4351:0.2399:0.0	.	187;187	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	M	187	ENSP00000346964:K187M;ENSP00000313084:K187M	ENSP00000313084:K187M	K	+	2	0	EGFLAM	38406169	1.000000	0.71417	0.897000	0.35233	0.776000	0.43924	0.897000	0.28390	0.462000	0.27095	-0.429000	0.05907	AAG	EGFLAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253824.1		+	ENST00000322350.5	Missense_Mutation	SNP	5 : 38370412 - 38370412 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	379	102
EIF4G1	1981	broad.mit.edu	37	3	184038482	184038482	+	Missense_Mutation	SNP	G	G	A	rs34838305	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:184038482G>A	ENST00000392537.2	+	5	588	c.341G>A	c.(340-342)cGc>cAc	p.R114H	EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R201H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R201H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H	NM_198244.2	NP_937887	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	201					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGGGCCCGCACTGCCTCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	91	80	83		623,623,14,602,602,110,341	4.2	1	3	dbSNP_126	83	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	29,29,29,29,29,29,29	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	208/1607,208/1607,5/1405,201/1601,201/1600,37/1436,114/1513	184038482	4,13002	2203	4300	6503	SO:0001583	missense			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867	1981	1981		Parkinson disease	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F	NA	1429670, 9372926, 21907011	Standard	NM_182917	NM_182917	NA	Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000392537.2:c.341G>A	3.37:g.184038482G>A	ENSP00000376320:p.Arg114His	NA	D3DNT4|D3DNT5|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	37	CCDS3260.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213090	0.79352	0.0	4.65E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	1.11;1.11;1.11;0.19;1.11;1.11;1.11;1.11;3.39;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.95;3.37;0.07;3.31;-0.21;0.78;3.32	5.08	4.21	0.49690	.	0.062143	0.64402	N	0.000015	T	0.53626	0.1808	L	0.32530	0.975	0.53688	D	0.999978	B;B;B;B	0.19073	0.033;0.033;0.033;0.033	B;B;B;B	0.15052	0.012;0.012;0.012;0.007	T	0.47749	-0.9093	10	0.20519	T	0.43	-3.7867	13.5567	0.61763	0.0749:0.0:0.9251:0.0	rs34838305	208;201;201;208	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	H	201;161;114;5;201;208;208;142;37;208;114;201;201;208;151;161;37;37;5;5;5;5;5	ENSP00000316879:R201H;ENSP00000391935:R161H;ENSP00000376320:R114H;ENSP00000407244:R5H;ENSP00000391412:R201H;ENSP00000413159:R208H;ENSP00000371767:R208H;ENSP00000403269:R142H;ENSP00000317600:R37H;ENSP00000338020:R208H;ENSP00000407682:R114H;ENSP00000343450:R201H;ENSP00000323737:R201H;ENSP00000416255:R208H;ENSP00000415943:R151H;ENSP00000395974:R161H;ENSP00000398145:R37H;ENSP00000399858:R37H;ENSP00000411707:R5H;ENSP00000411826:R5H;ENSP00000409545:R5H;ENSP00000399969:R5H;ENSP00000404754:R5H	ENSP00000323737:R201H	R	+	2	0	EIF4G1	185521176	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.439000	0.80444	1.377000	0.46286	0.655000	0.94253	CGC	EIF4G1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345729.2		+	ENST00000392537.2	Missense_Mutation	SNP	3 : 184038482 - 184038482 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	359	6
ELMOD1	55531	broad.mit.edu	37	11	107506439	107506439	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:107506439G>A	ENST00000531234.1	+	7	908	c.350G>A	c.(349-351)cGt>cAt	p.R117H	ELMOD1_ENST00000265840.7_Missense_Mutation_p.R123H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H			Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	123					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GAAAAACTGCGTAGAGAGGCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	144	147			NA	NA	11		NA											NA				107506439		1887	4121	6008	SO:0001583	missense			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675	55531	55531			25334	protein-coding gene	gene with protein product		615456	ELMO domain containing 1		NA	12477932	Standard	NM_018712	NM_018712	NA	Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000531234.1:c.350G>A	11.37:g.107506439G>A	ENSP00000433232:p.Arg117His	NA	Q9NPW3	37		.	.	.	.	.	.	.	.	.	.	G	34	5.318541	0.95682	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.33865	1.39;1.39;1.39	5.57	5.57	0.84162	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.66337	-0.5949	10	0.56958	D	0.05	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	123;123	Q8N336;G5E9S5	ELMD1_HUMAN;.	H	117;123;123	ENSP00000433232:R117H;ENSP00000265840:R123H;ENSP00000412257:R123H	ENSP00000265840:R123H	R	+	2	0	ELMOD1	107011649	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.989000	0.93506	2.785000	0.95823	0.591000	0.81541	CGT	ELMOD1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389405.1		+	ENST00000531234.1	Missense_Mutation	SNP	11 : 107506439 - 107506439 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	258	7
EMC1	23065	broad.mit.edu	37	1	19563697	19563697	+	Silent	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19563697T>A	ENST00000477853.1	-	12	1290	c.1248A>T	c.(1246-1248)tcA>tcT	p.S416S	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.S415S|EMC1_ENST00000375208.3_Silent_p.S394S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1	NA											NA						GGTAGCCCACTGAGTCATCCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	193	196			NA	NA	1		NA											NA				19563697		2203	4300	6503	SO:0001819	synonymous_variant				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463	23065	23065			28957	protein-coding gene	gene with protein product			KIAA0090	KIAA0090	NA	22119785	Standard	NM_015047	NM_015047	NA	Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1248A>T	1.37:g.19563697T>A		NA		37	CCDS190.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447363	0.25987	.	.	ENSG00000127463	ENST00000375197	.	.	.	6.07	-12.1	0.00011	.	0.052548	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69548	-0.5116	6	0.87932	D	0	-15.318	3.3237	0.07059	0.1582:0.317:0.3859:0.1389	.	.	.	.	C	150	.	ENSP00000364343:S150C	S	-	1	0	KIAA0090	19436284	0.000000	0.05858	0.198000	0.23420	0.999000	0.98932	-6.580000	0.00060	-3.092000	0.00247	0.533000	0.62120	AGT	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007076.2		-	ENST00000477853.1	Silent	SNP	1 : 19563697 - 19563697 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	898	19
ERCC6	2074	broad.mit.edu	37	10	50678629	50678629	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:50678629T>C	ENST00000355832.5	-	18	3455	c.3377A>G	c.(3376-3378)aAt>aGt	p.N1126S	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1126					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACATTCCCCATTTCCACTAAT	0.393		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	142	145			NA	NA	10		NA											NA				50678629		2203	4300	6503	SO:0001583	missense			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830	2074	2074			3438	protein-coding gene	gene with protein product	Cockayne syndrome B protein	609413	excision repair cross-complementing rodent repair deficiency, complementation group 6	CKN2	NA	1339317, 19179336	Standard	NM_000124	NM_000124	NA	Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3377A>G	10.37:g.50678629T>C	ENSP00000348089:p.Asn1126Ser	NA	D3DX94|Q5W0L9	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486713	0.26686	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82344	-1.6;-1.33	5.95	2.33	0.28932	.	.	.	.	.	T	0.71290	0.3322	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.51474	-0.8701	9	0.11794	T	0.64	-1.9129	8.1179	0.30955	0.0:0.2339:0.0:0.7661	.	1126;503	Q03468;Q59FF6	ERCC6_HUMAN;.	S	1126;503;496	ENSP00000348089:N1126S;ENSP00000445134:N496S	ENSP00000348089:N1126S	N	-	2	0	ERCC6	50348635	0.007000	0.16637	0.006000	0.13384	0.404000	0.30871	1.437000	0.34991	0.152000	0.19188	0.533000	0.62120	AAT	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047990.1		-	ENST00000355832.5	Missense_Mutation	SNP	10 : 50678629 - 50678629 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	603	13
ESRP2	80004	broad.mit.edu	37	16	68265495	68265495	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:68265495G>A	ENST00000473183.2	-	11	1940	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	ESRP2_ENST00000565858.1_Missense_Mutation_p.R478C			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	478					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCTCGGAGGCGTACACAGTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	78	82			NA	NA	16		NA											NA				68265495		2198	4300	6498	SO:0001583	missense			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067	80004	80004		RNA binding motif (RRM) containing	26152	protein-coding gene	gene with protein product		612960	RNA binding motif protein 35B	RBM35B	NA	12477932	Standard	NM_024939	NM_024939	NA	Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000473183.2:c.1402C>T	16.37:g.68265495G>A	ENSP00000418748:p.Arg468Cys	NA	Q8N6H8|Q8WZ15|Q9H6I4	37	CCDS10863.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012624	0.75161	.	.	ENSG00000103067	ENST00000473183	T	0.09163	3.01	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69105	-0.5233	10	0.87932	D	0	-15.6647	20.3437	0.98782	0.0:0.0:1.0:0.0	.	478;468	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	C	468	ENSP00000418748:R468C	ENSP00000418748:R468C	R	-	1	0	ESRP2	66822996	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	6.459000	0.73513	2.815000	0.96918	0.561000	0.74099	CGC	ESRP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268893.2		-	ENST00000473183.2	Missense_Mutation	SNP	16 : 68265495 - 68265495 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	274	4
EXOC5	10640	broad.mit.edu	37	14	57698379	57698379	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:57698379C>G	ENST00000413566.2	-	11	1352	c.993G>C	c.(991-993)caG>caC	p.Q331H	EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	331					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ACAAGAAAGTCTGTTTATCAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	69			NA	NA	14		NA											NA				57698379		1823	4079	5902	SO:0001583	missense			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367	10640	10640			10696	protein-coding gene	gene with protein product		604469	SEC10 (S. cerevisiae)-like 1, SEC10-like 1 (S. cerevisiae)	SEC10L1	NA	9119050	Standard	NM_006544	XM_005267272	NA	Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.993G>C	14.37:g.57698379C>G	ENSP00000389934:p.Gln331His	NA	B2R6C5	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240468	0.39598	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.44482	0.92;0.92	5.62	5.62	0.85841	.	0.048260	0.85682	D	0.000000	T	0.23766	0.0575	N	0.02539	-0.55	0.51767	D	0.999934	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.08617	-1.0713	10	0.33940	T	0.23	-8.6151	20.0333	0.97547	0.0:1.0:0.0:0.0	.	266;331	F8W9B8;O00471	.;EXOC5_HUMAN	H	331;266	ENSP00000389934:Q331H;ENSP00000342100:Q266H	ENSP00000342100:Q266H	Q	-	3	2	EXOC5	56768132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.013000	0.57138	2.810000	0.96702	0.585000	0.79938	CAG	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412905.1		-	ENST00000413566.2	Missense_Mutation	SNP	14 : 57698379 - 57698379 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	271	5
EXOSC5	56915	broad.mit.edu	37	19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	122	124			NA	NA	19		NA											NA				41903139		2203	4300	6503	SO:0001583	missense			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348	56915	56915			24662	protein-coding gene	gene with protein product	exosome component Rrp46	606492			NA	11110791, 11812149	Standard	NM_020158	NM_020158	NA	Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.95C>T	19.37:g.41903139G>A	ENSP00000221233:p.Ala32Val	NA	Q32Q81|Q8NG16|Q96I89	37	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819174	0.50633	.	.	ENSG00000077348	ENST00000221233	T	0.63580	-0.05	5.55	4.52	0.55395	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	N	0.000054	T	0.36963	0.0986	N	0.05351	-0.065	0.38224	D	0.940854	B	0.26547	0.152	B	0.17098	0.017	T	0.32322	-0.9911	10	0.31617	T	0.26	-17.2989	8.2921	0.31963	0.1727:0.0:0.8273:0.0	.	32	Q9NQT4	EXOS5_HUMAN	V	32	ENSP00000221233:A32V	ENSP00000221233:A32V	A	-	2	0	EXOSC5	46594979	0.997000	0.39634	0.992000	0.48379	0.964000	0.63967	2.911000	0.48774	1.579000	0.49836	0.590000	0.80494	GCC	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463492.1		-	ENST00000221233.4	Missense_Mutation	SNP	19 : 41903139 - 41903139 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	739	7
F12	2161	broad.mit.edu	37	5	176831274	176831274	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176831274G>A	ENST00000253496.3	-	9	989	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	314	Pro-rich.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATGAGTGGGACATGAAG	0.711		NA							Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	5		NA											NA				176831274		2194	4290	6484	SO:0001583	missense	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	2161	2161	3.4.21.38		3530	protein-coding gene	gene with protein product		610619			NA		Standard		NM_000505	NA	Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.941C>T	5.37:g.176831274G>A	ENSP00000253496:p.Pro314Leu	1934	P78339	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837406	0.16891	.	.	ENSG00000131187	ENST00000253496	D	0.89050	-2.46	4.4	-4.43	0.03568	.	3.436950	0.00947	N	0.002906	T	0.72574	0.3477	N	0.05124	-0.11	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.67360	-0.5690	10	0.10377	T	0.69	.	5.3148	0.15850	0.486:0.0:0.374:0.14	.	314	P00748	FA12_HUMAN	L	314	ENSP00000253496:P314L	ENSP00000253496:P314L	P	-	2	0	F12	176763880	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-0.948000	0.03668	-1.191000	0.01696	CCA	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373217.1		-	ENST00000253496.3	Missense_Mutation	SNP	5 : 176831274 - 176831274 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	118	37
FAM170A	340069	broad.mit.edu	37	5	118965470	118965470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:118965470C>T	ENST00000515256.1	+	1	179	c.7C>T	c.(7-9)Cga>Tga	p.R3*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	3						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TATCATGAAACGACGACAAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	163	164			NA	NA	5		NA											NA				118965470		1868	4114	5982	SO:0001587	stop_gained			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334	340069	340069			27963	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182761	NM_182761	NA	Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.7C>T	5.37:g.118965470C>T	ENSP00000422684:p.Arg3*	NA	Q66LM8|Q7Z4V2|Q8IW94	37		.	.	.	.	.	.	.	.	.	.	C	36	5.799191	0.96960	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	.	.	.	4.24	3.36	0.38483	.	0.000000	0.42172	D	0.000747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6887	9.5633	0.39383	0.2093:0.7907:0.0:0.0	.	.	.	.	X	3	.	.	R	+	1	2	FAM170A	118993369	0.821000	0.29204	0.659000	0.29680	0.781000	0.44180	1.696000	0.37773	1.368000	0.46115	0.561000	0.74099	CGA	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000371126.1		+	ENST00000515256.1	Nonsense_Mutation	SNP	5 : 118965470 - 118965470 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	714	7
FBN3	84467	broad.mit.edu	37	19	8190815	8190815	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:8190815C>T	ENST00000600128.1	-	22	3106	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	FBN3_ENST00000601739.1_Missense_Mutation_p.E898K|FBN3_ENST00000270509.2_Missense_Mutation_p.E898K			Q75N90	FBN3_HUMAN	fibrillin 3	898	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCAGGCCCTCTGGACACTCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	51	54			NA	NA	19		NA											NA				8190815		2203	4300	6503	SO:0001583	missense				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2692G>A	19.37:g.8190815C>T	ENSP00000470498:p.Glu898Lys	NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	4.459	0.085024	0.08583	.	.	ENSG00000142449	ENST00000270509	D	0.92348	-3.02	4.0	-8.0	0.01126	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.296672	0.32884	N	0.005521	T	0.77315	0.4112	N	0.17564	0.495	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.62515	-0.6838	10	0.33940	T	0.23	.	4.9192	0.13862	0.084:0.3077:0.4089:0.1993	.	898	Q75N90	FBN3_HUMAN	K	898	ENSP00000270509:E898K	ENSP00000270509:E898K	E	-	1	0	FBN3	8096815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.712000	0.05013	-2.657000	0.00421	-1.887000	0.00540	GAG	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Missense_Mutation	SNP	19 : 8190815 - 8190815 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	297	10
FBXL5	26234	broad.mit.edu	37	4	15629518	15629518	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:15629518G>C	ENST00000341285.3	-	7	1155	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C|FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	344					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATTTTGCTGGAAACTGCAGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	80	81			NA	NA	4		NA											NA				15629518		2202	4300	6502	SO:0001583	missense			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564	26234	26234		F-boxes / Leucine-rich repeats	13602	protein-coding gene	gene with protein product		605655			NA	10531035	Standard		NM_012161	NA	Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1031C>G	4.37:g.15629518G>C	ENSP00000344866:p.Ser344Cys	NA	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256719|3.256719	0.59321|0.59321	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|T;T;T	.|0.20598	.|2.06;2.06;2.06	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.103499	.|0.64402	.|D	.|0.000002	T|T	0.28466|0.28466	0.0704|0.0704	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12630	.|0.006;0.003	.|B;B	.|0.13407	.|0.009;0.004	T|T	0.05194|0.05194	-1.0900|-1.0900	5|10	.|0.87932	.|D	.|0	-9.4228|-9.4228	17.5156|17.5156	0.87772|0.87772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;344	.|Q9UKA1-2;Q9UKA1	.|.;FBXL5_HUMAN	L|C	264|344;327;218	.|ENSP00000344866:S344C;ENSP00000408679:S327C;ENSP00000371795:S218C	.|ENSP00000344866:S344C	F|S	-|-	3|2	2|0	FBXL5|FBXL5	15238616|15238616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.856000|8.856000	0.92245|0.92245	2.570000|2.570000	0.86706|0.86706	0.460000|0.460000	0.39030|0.39030	TTC|TCC	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214235.2		-	ENST00000341285.3	Missense_Mutation	SNP	4 : 15629518 - 15629518 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	211	5
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACATATGCATCAGCTAAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											55	53	54			NA	NA	15		NA											NA				49776572		2037	3875	5912	SO:0001819	synonymous_variant			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285	2252	2252		Endogenous ligands	3685	protein-coding gene	gene with protein product	keratinocyte growth factor	148180	fibroblast growth factor 7 (keratinocyte growth factor)		NA	7749227, 1409637	Standard	NM_002009	NM_002009	NA	Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C		NA		37	CCDS10131.1																																																																																			FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254374.3		+	ENST00000267843.4	Silent	SNP	15 : 49776572 - 49776572 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	290	5
FRAS1	80144	broad.mit.edu	37	4	79417989	79417989	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:79417989G>T	ENST00000264895.6	+	60	9429	c.8989G>T	c.(8989-8991)Gac>Tac	p.D2997Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2992	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TATCCACGATGACTCCATGTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	187	188			NA	NA	4		NA											NA				79417989		1947	4158	6105	SO:0001583	missense			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8989G>T	4.37:g.79417989G>T	ENSP00000264895:p.Asp2997Tyr	NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.113120|4.113120	0.77210|0.77210	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.57107|.	0.42|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86661|.	0.5986|.	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.89622|.	0.3849|.	10|.	0.87932|.	D|.	0|.	.|.	19.1434|19.1434	0.93455|0.93455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2997|.	E9PHH6|.	.|.	Y|L	2997|1225	ENSP00000264895:D2997Y|.	ENSP00000264895:D2997Y|.	D|X	+|+	1|2	0|2	FRAS1|FRAS1	79637013|79637013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	9.594000|9.594000	0.98254|0.98254	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GAC|TGA	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000264895.6	Missense_Mutation	SNP	4 : 79417989 - 79417989 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	792	13
FSTL5	56884	broad.mit.edu	37	4	162307378	162307378	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:162307378A>T	ENST00000306100.5	-	16	2501	c.2065T>A	c.(2065-2067)Ttc>Atc	p.F689I	FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	689						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCACTATTGAACCCAATGACT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	120	124			NA	NA	4		NA											NA				162307378		2203	4300	6503	SO:0001583	missense			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843	56884	56884		EF-hand domain containing, Immunoglobulin superfamily / I-set domain containing	21386	protein-coding gene	gene with protein product					NA	10574462, 15527507	Standard	NM_020116	NM_020116	NA	Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2065T>A	4.37:g.162307378A>T	ENSP00000305334:p.Phe689Ile	NA	Q9NSW7|Q9ULF7	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.422309	0.43020	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.71817	-0.58;-0.56;-0.6;-0.56	5.55	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);	0.397737	0.31134	N	0.008186	T	0.48484	0.1502	N	0.08118	0	0.28959	N	0.889968	B;B;B	0.17268	0.021;0.007;0.01	B;B;B	0.20184	0.028;0.007;0.019	T	0.38112	-0.9676	10	0.22706	T	0.39	.	10.4916	0.44754	0.9243:0.0:0.0757:0.0	.	679;688;689	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	689;688;679;688	ENSP00000305334:F689I;ENSP00000368462:F688I;ENSP00000389270:F679I;ENSP00000440409:F688I	ENSP00000305334:F689I	F	-	1	0	FSTL5	162526828	1.000000	0.71417	0.663000	0.29738	0.888000	0.51559	3.708000	0.54845	0.952000	0.37798	0.533000	0.62120	TTC	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364773.2		-	ENST00000306100.5	Missense_Mutation	SNP	4 : 162307378 - 162307378 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	245	83
FXR1	8087	broad.mit.edu	37	3	180675681	180675681	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:180675681G>C	ENST00000357559.4	+	10	1339	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q|FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	319					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTGAGAATTGAAGGGGACAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	114	111			NA	NA	3		NA											NA				180675681		2203	4300	6503	SO:0001583	missense			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416	NA	8087			4023	protein-coding gene	gene with protein product		600819			NA	7781595, 9642279	Standard		NM_005087	NA	Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.955G>C	3.37:g.180675681G>C	ENSP00000350170:p.Glu319Gln	NA	A8K9B8|Q7Z450|Q8N6R8	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985897	0.93044	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.44	5.44	0.79542	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.974;0.99;0.993	T	0.66372	-0.5940	10	0.87932	D	0	-16.7507	19.6264	0.95679	0.0:0.0:1.0:0.0	.	306;270;234;234;319;319	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	Q	319;234;270;234;319;306	ENSP00000350170:E319Q;ENSP00000307633:E234Q;ENSP00000420643:E270Q;ENSP00000420515:E234Q;ENSP00000388828:E319Q;ENSP00000418097:E306Q	ENSP00000307633:E234Q	E	+	1	0	FXR1	182158375	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.813000	0.99286	2.717000	0.92951	0.655000	0.94253	GAA	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350265.5		+	ENST00000357559.4	Missense_Mutation	SNP	3 : 180675681 - 180675681 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	291	6
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4406		0,0,2203	176	181	179		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	SO:0001583	missense			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820	79443	79443		Zinc fingers, FYVE domain containing	14673	protein-coding gene	gene with protein product		607182			NA	11896456	Standard	NM_024513	NM_024513	NA	Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val	NA	Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	37	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257320.2		-	ENST00000296137.2	Missense_Mutation	SNP	3 : 45996750 - 45996750 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	772	7
GALNT6	11226	broad.mit.edu	37	12	51749736	51749736	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:51749736C>G	ENST00000543196.2	-	10	1814	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	537	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTGTGTACTCAAAGTACTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	107	114			NA	NA	12		NA											NA				51749736		2203	4300	6503	SO:0001583	missense			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629	11226	11226		Glycosyltransferase family 2 domain containing	4128	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 6	605148	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)		NA	10464263	Standard	NM_007210	NM_007210	NA	Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1609G>C	12.37:g.51749736C>G	ENSP00000444171:p.Glu537Gln	NA	Q8IYH4|Q9H6G2|Q9UIV5	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729653	0.69074	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26810	1.71;1.71	3.92	3.92	0.45320	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54629	-0.8265	10	0.27082	T	0.32	.	15.908	0.79445	0.0:1.0:0.0:0.0	.	537	Q8NCL4	GALT6_HUMAN	Q	537;537;518	ENSP00000444171:E537Q;ENSP00000348668:E537Q	ENSP00000348668:E537Q	E	-	1	0	GALNT6	50036003	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.378000	0.79679	2.485000	0.83878	0.655000	0.94253	GAG	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469735.1		-	ENST00000543196.2	Missense_Mutation	SNP	12 : 51749736 - 51749736 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	416	7
GLTSCR1L	23506	broad.mit.edu	37	6	42832490	42832490	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:42832490C>T	ENST00000314073.5	+	13	2722	c.2546C>T	c.(2545-2547)gCa>gTa	p.A849V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A849V					GLTSCR1-like	NA											NA						GGCAGTAAAGCAAGCAGCTCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	102	109			NA	NA	6		NA											NA				42832490		2203	4300	6503	SO:0001583	missense			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624	23506	23506			21111	protein-coding gene	gene with protein product			KIAA0240	KIAA0240	NA		Standard	NM_015349	XM_005248972	NA	Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2546C>T	6.37:g.42832490C>T	ENSP00000313933:p.Ala849Val	NA		37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	9.662	1.144486	0.21288	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.43294	0.95;0.95	4.79	3.91	0.45181	.	0.774289	0.12166	N	0.493542	T	0.12774	0.0310	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.25467	-1.0131	10	0.40728	T	0.16	0.9563	10.3991	0.44218	0.0:0.8402:0.0:0.1598	.	849	Q6AI39	K0240_HUMAN	V	849	ENSP00000313933:A849V;ENSP00000377723:A849V	ENSP00000313933:A849V	A	+	2	0	KIAA0240	42940468	0.350000	0.24878	0.009000	0.14445	0.466000	0.32739	2.565000	0.45939	1.118000	0.41863	0.655000	0.94253	GCA	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040562.3		+	ENST00000314073.5	Missense_Mutation	SNP	6 : 42832490 - 42832490 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	441	129
GOLGA1	2800	broad.mit.edu	37	9	127644234	127644234	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:127644234C>T	ENST00000373555.4	-	21	2299		c.e21-1			NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	NA						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTCTGATTTTCTGAAAAACCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	86	86			NA	NA	9		NA											NA				127644234		2203	4300	6503	SO:0001630	splice_region_variant			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935	2800	2800			4424	protein-coding gene	gene with protein product		602502	golgi autoantigen, golgin subfamily a, 1		NA	9324025	Standard	NM_002077	NM_002077	NA	Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1966-1G>A	9.37:g.127644234C>T		NA	Q5T164|Q8IYZ9	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633014	0.87660	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA1	126684055	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.772000	0.55325	2.745000	0.94114	0.655000	0.94253	.	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054049.1	Intron	-	ENST00000373555.4	Splice_Site	SNP	9 : 127644234 - 127644234 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	275	30
GPR156	165829	broad.mit.edu	37	3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000461057.1_Missense_Mutation_p.R756W|GPR156_ENST00000315843.3_Missense_Mutation_p.R760W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGTAGGGCCGGTGGCAGCGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	105	100			NA	NA	3		NA											NA				119886046		2203	4300	6503	SO:0001583	missense			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697	165829	165829		GPCR / Class C : Orphans	20844	protein-coding gene	gene with protein product		610464			NA	12591167	Standard	NM_153002	NM_153002	NA	Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2278C>T	3.37:g.119886046G>A	ENSP00000417261:p.Arg760Trp	NA	Q14CM1|Q86SN6	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874542	0.72180	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.63417	-0.04;-0.04;-0.0	4.97	2.03	0.26663	.	0.000000	0.64402	D	0.000008	T	0.67069	0.2854	L	0.34521	1.04	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62473	-0.6847	9	.	.	.	-23.5143	13.1849	0.59675	0.0:0.0:0.4344:0.5656	.	756;760	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	760;760;756	ENSP00000417261:R760W;ENSP00000324553:R760W;ENSP00000418758:R756W	.	R	-	1	2	GPR156	121368736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.382000	0.34374	0.318000	0.23185	0.561000	0.74099	CGG	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355139.1		-	ENST00000464295.1	Missense_Mutation	SNP	3 : 119886046 - 119886046 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	820	7
GPR97	222487	broad.mit.edu	37	16	57714440	57714440	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:57714440G>A	ENST00000333493.4	+	8	953	c.792G>A	c.(790-792)acG>acA	p.T264T	GPR97_ENST00000327655.6_Silent_p.T54T|GPR97_ENST00000450388.3_Silent_p.T144T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T264T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCAGTCCACGGTGCATATCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											136	119	125			NA	NA	16		NA											NA				57714440		2198	4300	6498	SO:0001819	synonymous_variant			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885	222487	222487		-, GPCR / Class B : Orphans	13728	protein-coding gene	gene with protein product					NA	12435584, 222487	Standard	NM_170776	NM_170776	NA	Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.792G>A	16.37:g.57714440G>A		NA	Q6ZMF4|Q86SL9|Q8IZF1	37	CCDS10786.1																																																																																			GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257333.2		+	ENST00000333493.4	Silent	SNP	16 : 57714440 - 57714440 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	308	74
GRIK2	2898	broad.mit.edu	37	6	102516276	102516276	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:102516276C>T	ENST00000421544.1	+	16	3107	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	873					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAAGTGCCAGCGTCGGTTAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	109	112			NA	NA	6		NA											NA				102516276		2203	4300	6503	SO:0001583	missense				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418	2898	2898		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4580	protein-coding gene	gene with protein product		138244		GLUR6	NA	8034316	Standard		NM_021956	NA	Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2617C>T	6.37:g.102516276C>T	ENSP00000397026:p.Arg873Cys	NA	A6NMY9|B5MCV0|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795302	0.90453	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.12147	2.71;2.87;2.72	5.79	5.79	0.91817	.	0.050411	0.85682	D	0.000000	T	0.20941	0.0504	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	P	0.55260	0.772	T	0.00276	-1.1855	10	0.59425	D	0.04	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	873	Q13002	GRIK2_HUMAN	C	873;797;824	ENSP00000397026:R873C;ENSP00000358133:R797C;ENSP00000358130:R824C	ENSP00000358130:R824C	R	+	1	0	GRIK2	102622969	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	CGT	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043718.1		+	ENST00000421544.1	Missense_Mutation	SNP	6 : 102516276 - 102516276 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	246	79
GRM8	2918	broad.mit.edu	37	7	126410092	126410092	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:126410092G>A	ENST00000339582.2	-	7	1992	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GRM8_ENST00000358373.3_Missense_Mutation_p.S395F|GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|GRM8_ENST00000405249.1_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	395					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGTTCATAAGATGAATCCCG	0.388		NA								HNSCC(24;0.065)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	70	73			NA	NA	7		NA											NA				126410092		2203	4300	6503	SO:0001583	missense				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603	NA	2918		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4600	protein-coding gene	gene with protein product		601116			NA	8824806	Standard		NM_000845	NA	Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1184C>T	7.37:g.126410092G>A	ENSP00000344173:p.Ser395Phe	NA	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783695	0.16189	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.247838	0.38217	N	0.001768	D	0.82848	0.5126	L	0.29908	0.895	0.44247	D	0.997094	B;B;B	0.29378	0.243;0.141;0.037	B;B;B	0.35114	0.196;0.054;0.043	T	0.80455	-0.1375	10	0.46703	T	0.11	.	14.7788	0.69749	0.0:0.1438:0.8562:0.0	.	395;395;395	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	F	395	ENSP00000344173:S395F;ENSP00000409790:S395F;ENSP00000351142:S395F;ENSP00000385731:S395F	ENSP00000344173:S395F	S	-	2	0	GRM8	126197328	0.998000	0.40836	0.781000	0.31783	0.040000	0.13550	2.992000	0.49417	2.769000	0.95229	0.655000	0.94253	TCT	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059209.4		-	ENST00000339582.2	Missense_Mutation	SNP	7 : 126410092 - 126410092 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	150	51
GUCY2C	2984	broad.mit.edu	37	12	14766211	14766211	+	Missense_Mutation	SNP	C	C	T	rs118078831		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:14766211C>T	ENST00000261170.3	-	27	3198	c.3062G>A	c.(3061-3063)cGt>cAt	p.R1021H	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1021					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGCTTGCAAACGCTGTTGATT	0.413		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	7e-04	SNP								NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	155	164	161		3062	4.8	1	12	dbSNP_133	161	1,8599		0,1,4299	yes	missense	GUCY2C	NM_004963.3	29	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	1021/1074	14766211	2,13004	2203	4300	6503	SO:0001583	missense				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019	2984	2984			4688	protein-coding gene	gene with protein product		601330		GUC2C	NA	8661067	Standard		NM_004963	NA	Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3062G>A	12.37:g.14766211C>T	ENSP00000261170:p.Arg1021His	NA	B2RMY6	37	CCDS8664.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.52	2.560274	0.45590	2.27E-4	1.16E-4	ENSG00000070019	ENST00000261170	D	0.81659	-1.52	5.85	4.78	0.61160	.	0.209202	0.48767	D	0.000168	T	0.73265	0.3565	L	0.39147	1.195	0.58432	D	0.999994	B	0.25272	0.122	B	0.20955	0.032	T	0.70346	-0.4897	10	0.42905	T	0.14	.	14.7732	0.69696	0.0:0.8799:0.0:0.1201	.	1021	P25092	GUC2C_HUMAN	H	1021	ENSP00000261170:R1021H	ENSP00000261170:R1021H	R	-	2	0	GUCY2C	14657478	0.984000	0.35163	0.979000	0.43373	0.997000	0.91878	2.584000	0.46102	2.773000	0.95371	0.655000	0.94253	CGT	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400835.1		-	ENST00000261170.3	Missense_Mutation	SNP	12 : 14766211 - 14766211 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	705	7
HGFAC	3083	broad.mit.edu	37	4	3445871	3445871	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3445871G>A	ENST00000382774.3	+	5	696	c.581G>A	c.(580-582)gGc>gAc	p.G194D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	194	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCTTCACCGGCAAGGACTGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	15			NA	NA	4		NA											NA				3445871		2191	4294	6485	SO:0001583	missense			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3083	3083	3.4.21.-		4894	protein-coding gene	gene with protein product		604552			NA	7683665, 8226803	Standard		XM_005247966	NA	Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.581G>A	4.37:g.3445871G>A	ENSP00000372224:p.Gly194Asp	NA	Q14726|Q2M1W7|Q53X47	37	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169872	0.38315	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.99105	-5.43;-5.43	3.94	3.94	0.45596	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	M	0.90650	3.135	0.45239	D	0.998246	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98698	1.0699	10	0.87932	D	0	.	13.5073	0.61491	0.0:0.0:1.0:0.0	.	194;194	D6RAR4;Q04756	.;HGFA_HUMAN	D	194	ENSP00000372224:G194D;ENSP00000421801:G194D	ENSP00000372224:G194D	G	+	2	0	HGFAC	3415669	0.004000	0.15560	0.189000	0.23252	0.168000	0.22595	0.771000	0.26633	2.023000	0.59567	0.313000	0.20887	GGC	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206607.3		+	ENST00000382774.3	Missense_Mutation	SNP	4 : 3445871 - 3445871 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	113	5
HMCN1	83872	broad.mit.edu	37	1	186120449	186120449	+	Missense_Mutation	SNP	G	G	A	rs148097981		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:186120449G>A	ENST00000271588.4	+	94	14955	c.14726G>A	c.(14725-14727)cGt>cAt	p.R4909H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4909	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAATAATACGTGCCAAAATT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	111	111	111		14726	-0.3	0.7	1	dbSNP_134	111	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HMCN1	NM_031935.2	29	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	benign	4909/5636	186120449	4,13002	2203	4300	6503	SO:0001583	missense			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14726G>A	1.37:g.186120449G>A	ENSP00000271588:p.Arg4909His	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821570	0.16678	0.0	4.65E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.29397	1.57;1.57	5.13	-0.313	0.12754	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.353337	0.33272	N	0.005100	T	0.11452	0.0279	N	0.11201	0.11	0.27937	N	0.937675	B	0.02656	0.0	B	0.04013	0.001	T	0.26326	-1.0106	10	0.13853	T	0.58	.	5.0568	0.14537	0.6639:0.0:0.2126:0.1235	.	4909	Q96RW7	HMCN1_HUMAN	H	4909	ENSP00000271588:R4909H;ENSP00000356462:R4909H	ENSP00000271588:R4909H	R	+	2	0	HMCN1	184387072	1.000000	0.71417	0.714000	0.30535	0.586000	0.36452	3.507000	0.53371	-0.275000	0.09219	-1.311000	0.01308	CGT	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186120449 - 186120449 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	381	101
HMGCR	3156	broad.mit.edu	37	5	74650437	74650437	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:74650437C>T	ENST00000287936.4	+	12	1634	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F|HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	493	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTGGTGTATCTATTCGCCGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	118	124			NA	NA	5		NA											NA				74650437		2203	4300	6503	SO:0001583	missense				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	3156	3156	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	hydroxymethylglutaryl-CoA reductase, 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)	142910	3-hydroxy-3-methylglutaryl-Coenzyme A reductase		NA		Standard		NM_000859	NA	Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1478C>T	5.37:g.74650437C>T	ENSP00000287936:p.Ser493Phe	NA	Q8N190	37	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263447	0.59431	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.44881	0.91;0.91;0.96	5.14	5.14	0.70334	Hydroxymethylglutaryl-CoA reductase, N-terminal (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.166783	0.56097	D	0.000035	T	0.46946	0.1419	L	0.52905	1.665	0.46678	D	0.999152	B;P;B	0.42296	0.215;0.775;0.215	B;B;B	0.43274	0.102;0.414;0.102	T	0.50524	-0.8818	10	0.59425	D	0.04	-18.4228	18.978	0.92745	0.0:1.0:0.0:0.0	.	493;493;493	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	F	493;424;493;493	ENSP00000426745:S493F;ENSP00000287936:S493F;ENSP00000340816:S493F	ENSP00000287936:S493F	S	+	2	0	HMGCR	74686193	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.270000	0.58896	2.570000	0.86706	0.467000	0.42956	TCT	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219877.2		+	ENST00000287936.4	Missense_Mutation	SNP	5 : 74650437 - 74650437 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	326	6
HOXC11	3227	broad.mit.edu	37	12	54367152	54367152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:54367152G>A	ENST00000243082.4	+	1	241	c.127G>A	c.(127-129)Gag>Aag	p.E43K	HOXC11_ENST00000546378.1_Missense_Mutation_p.E43K|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA	NM_014212.3	NP_055027.1	O43248	HXC11_HUMAN	homeobox C11	43					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CTACATGCCCGAGTTCTCCAC	0.642		NA	T	NUP98	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q13.3	3227	homeo box C11		L	0													114	119	117			NA	NA	12		NA											NA				54367152		2203	4300	6503	SO:0001583	missense				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388	3227	3227		Homeoboxes / ANTP class : HOXL subclass	5123	protein-coding gene	gene with protein product		605559	homeo box C11	HOX3H	NA	1973146, 1358459	Standard		NM_014212	NA	Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000243082.4:c.127G>A	12.37:g.54367152G>A	ENSP00000243082:p.Glu43Lys	NA	A8K7D1|Q96DH2	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.433131	0.83776	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.49432	0.78;0.78	4.47	4.47	0.54385	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.052375	0.85682	D	0.000000	T	0.55955	0.1953	L	0.54323	1.7	0.58432	D	0.999998	P	0.51791	0.948	P	0.51999	0.687	T	0.61569	-0.7036	10	0.72032	D	0.01	.	16.4268	0.83817	0.0:0.0:1.0:0.0	.	43	O43248	HXC11_HUMAN	K	43	ENSP00000446680:E43K;ENSP00000243082:E43K	ENSP00000243082:E43K	E	+	1	0	HOXC11	52653419	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.227000	0.95236	2.471000	0.83476	0.561000	0.74099	GAG	HOXC11-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407429.2		+	ENST00000243082.4	Missense_Mutation	SNP	12 : 54367152 - 54367152 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	825	16
IFT140	9742	broad.mit.edu	37	16	1657152	1657152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:1657152G>A	ENST00000426508.2	-	3	479	c.116C>T	c.(115-117)tCa>tTa	p.S39L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	39										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCTGCCTGTTGAGGTTGTGCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	182	193			NA	NA	16		NA											NA				1657152		2199	4300	6499	SO:0001583	missense			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535	9742	9742		Intraflagellar transport homologs, WD repeat domain containing	29077	protein-coding gene	gene with protein product		614620	WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas)	WDTC2	NA	9628581	Standard	NM_014714	NM_014714	NA	Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.116C>T	16.37:g.1657152G>A	ENSP00000406012:p.Ser39Leu	NA	A2A2A8|D3DU75|O60332	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	7.782	0.709735	0.15239	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.65178	-0.14;-0.14	5.53	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.614492	0.17548	N	0.170274	T	0.50922	0.1644	L	0.49126	1.545	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39313	-0.9620	10	0.31617	T	0.26	.	6.0312	0.19681	0.1449:0.0:0.7042:0.1509	.	39	Q96RY7	IF140_HUMAN	L	39	ENSP00000380562:S39L;ENSP00000406012:S39L	ENSP00000380562:S39L	S	-	2	0	IFT140	1597153	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	0.693000	0.25497	0.653000	0.30826	0.655000	0.94253	TCA	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250438.2		-	ENST00000426508.2	Missense_Mutation	SNP	16 : 1657152 - 1657152 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	652	10
IQCB1	9657	broad.mit.edu	37	3	121489398	121489398	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:121489398C>T	ENST00000310864.6	-	15	1805	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	531					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCTTTCCCTTCTGCCTCCTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	159	160			NA	NA	3		NA											NA				121489398		2203	4300	6503	SO:0001583	missense			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226	9657	9657			28949	protein-coding gene	gene with protein product	nephrocystin-5	609237	IQ calmodulin-binding motif containing 1		NA	15723066	Standard	NM_014642	NM_001023571	NA	Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1591G>A	3.37:g.121489398C>T	ENSP00000311505:p.Glu531Lys	NA	Q5DKQ7|Q8NI79|Q9BS08	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312378	0.23908	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.78595	-1.19;-1.19	5.34	3.4	0.38934	.	0.261904	0.42420	N	0.000712	T	0.58308	0.2113	N	0.25647	0.755	0.28325	N	0.922048	B;P	0.36837	0.002;0.571	B;B	0.36608	0.003;0.229	T	0.51268	-0.8727	10	0.08381	T	0.77	-4.0249	6.4099	0.21686	0.0:0.782:0.0:0.218	.	531;398	Q15051;Q15051-2	IQCB1_HUMAN;.	K	531;398	ENSP00000311505:E531K;ENSP00000323756:E398K	ENSP00000311505:E531K	E	-	1	0	IQCB1	122972088	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	1.277000	0.33167	1.482000	0.48325	0.650000	0.86243	GAA	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250573.1		-	ENST00000310864.6	Missense_Mutation	SNP	3 : 121489398 - 121489398 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	715	14
JMY	133746	broad.mit.edu	37	5	78586970	78586970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:78586970C>T	ENST00000396137.4	+	4	1837	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	459					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGATCGAATGCGAGCTGATCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	5		NA											NA				78586970		1839	4087	5926	SO:0001587	stop_gained			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409	133746	133746			28916	protein-coding gene	gene with protein product		604279			NA	10518217	Standard	NM_152405	NM_152405	NA	Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1375C>T	5.37:g.78586970C>T	ENSP00000379441:p.Arg459*	NA	A1L4P5|B5MDS2|B5MDT0	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	42	9.715321	0.99245	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.31	4.36	0.52297	.	0.072710	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.8873	0.79261	0.1637:0.8363:0.0:0.0	.	.	.	.	X	459	.	ENSP00000282259:R459X	R	+	1	2	JMY	78622726	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.195000	0.32186	2.472000	0.83506	0.555000	0.69702	CGA	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254070.4		+	ENST00000396137.4	Nonsense_Mutation	SNP	5 : 78586970 - 78586970 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	231	32
KDM1A	23028	broad.mit.edu	37	1	23376891	23376891	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23376891G>A	ENST00000400181.4	+	4	693	c.589G>A	c.(589-591)Gca>Aca	p.A197T	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T|KDM1A_ENST00000356634.3_Missense_Mutation_p.A177T	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	177	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTGGAGGGCGCAGCTTTCCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	1		NA											NA				23376891		2203	4300	6503	SO:0001583	missense			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487	23028	23028		Chromatin-modifying enzymes / K-demethylases	29079	protein-coding gene	gene with protein product		609132	amine oxidase (flavin containing) domain 2, lysine (K)-specific demethylase 1	AOF2, KDM1	NA	9628581, 12493763	Standard	NM_015013	NM_015013	NA	Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000400181.4:c.589G>A	1.37:g.23376891G>A	ENSP00000383042:p.Ala197Thr	NA	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	37	CCDS53278.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755977	0.96898	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.49139	1.16;0.79;0.8	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75522	-0.3288	10	0.72032	D	0.01	-23.8292	19.2577	0.93952	0.0:0.0:1.0:0.0	.	197;177	O60341-2;O60341	.;KDM1A_HUMAN	T	177;197;197	ENSP00000349049:A177T;ENSP00000383042:A197T;ENSP00000439072:A197T	ENSP00000349049:A177T	A	+	1	0	KDM1A	23249478	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.816000	0.99350	2.854000	0.98071	0.655000	0.94253	GCA	KDM1A-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008881.2		+	ENST00000400181.4	Missense_Mutation	SNP	1 : 23376891 - 23376891 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	335	5
KIAA0319	9856	broad.mit.edu	37	6	24580108	24580108	+	Silent	SNP	C	C	T	rs138756394	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:24580108C>T	ENST00000378214.3	-	8	1874	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	KIAA0319_ENST00000537886.1_Silent_p.T450T|KIAA0319_ENST00000430948.2_Silent_p.T405T|KIAA0319_ENST00000535378.1_Silent_p.T441T|KIAA0319_ENST00000543707.1_Silent_p.T450T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	450	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGAGGGCTGACGTCAAAGGCA	0.458		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0								C	,,,,	7,4399	12.9+/-30.5	0,7,2196	73	68	70		1323,1350,1215,1350,1350	-2.5	0	6	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	,,,,	0,7,6496	TT,TC,CC	NA	0.0,0.1589,0.0538	,,,,	441/1064,450/1073,405/1028,450/1012,450/1073	24580108	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261	9856	9856			21580	protein-coding gene	gene with protein product	neuronal migration	609269			NA	9205841, 15514892	Standard	NM_014809	NM_014809	NA	Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1350G>A	6.37:g.24580108C>T		NA	A7MD37|B2RTU7|B4DHA7|B4DK75|Q9UJC8|Q9Y4G7	37	CCDS34348.1																																																																																			KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040009.1		-	ENST00000378214.3	Silent	SNP	6 : 24580108 - 24580108 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	77	13
KIAA1217	56243	broad.mit.edu	37	10	24825794	24825794	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:24825794G>A	ENST00000307544.6	+	12	2887	c.2555G>A	c.(2554-2556)gGc>gAc	p.G852D	KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000376451.2_Missense_Mutation_p.G852D|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1169D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	1169					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTAGGTCGGGCGCCACAGTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	80	85			NA	NA	10		NA											NA				24825794		2203	4300	6503	SO:0001583	missense			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.2555G>A	10.37:g.24825794G>A	ENSP00000302343:p.Gly852Asp	NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37		.	.	.	.	.	.	.	.	.	.	G	15.37	2.814941	0.50527	.	.	ENSG00000120549	ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451	T;T;T;T;T;T	0.56275	1.1;1.47;1.08;0.54;0.47;0.97	5.62	4.66	0.58398	.	0.130328	0.51477	D	0.000091	T	0.66684	0.2814	M	0.68593	2.085	0.45662	D	0.998584	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.999;0.968;0.999	P;D;D;D;P;D	0.75020	0.9;0.974;0.985;0.963;0.733;0.964	T	0.66736	-0.5848	10	0.51188	T	0.08	.	10.0223	0.42051	0.0:0.1282:0.6268:0.2451	.	1134;1133;852;852;852;1169	Q5T5P2-7;A6NLF3;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2	.;.;.;.;.;SKT_HUMAN	D	1134;852;1169;1133;852;852;852;852	ENSP00000392625:G1134D;ENSP00000365637:G1169D;ENSP00000365635:G1133D;ENSP00000302343:G852D;ENSP00000379722:G852D;ENSP00000365634:G852D	ENSP00000302343:G852D	G	+	2	0	KIAA1217	24865800	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	4.623000	0.61247	2.646000	0.89796	0.655000	0.94253	GGC	KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Missense_Mutation	SNP	10 : 24825794 - 24825794 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	316	6
KIAA1377	57562	broad.mit.edu	37	11	101833633	101833633	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:101833633A>T	ENST00000263468.8	+	6	2137	c.1867A>T	c.(1867-1869)Att>Ttt	p.I623F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	623							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGTGCAGAAATTCCAAAGAC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	37	35			NA	NA	11		NA											NA				101833633		2201	4295	6496	SO:0001583	missense			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318	57562	57562			29264	protein-coding gene	gene with protein product		614634			NA	10718198	Standard	NM_020802	XM_005271627	NA	Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1867A>T	11.37:g.101833633A>T	ENSP00000263468:p.Ile623Phe	NA	Q4G0U6	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953067	0.34471	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08807	3.05;3.05	5.42	4.26	0.50523	.	0.353806	0.27206	N	0.020421	T	0.19446	0.0467	M	0.68317	2.08	0.33432	D	0.581278	D	0.53151	0.958	P	0.54312	0.748	T	0.22556	-1.0213	10	0.48119	T	0.1	-7.3063	12.5825	0.56397	0.8611:0.1389:0.0:0.0	.	623	Q9P2H0	K1377_HUMAN	F	623;424	ENSP00000263468:I623F;ENSP00000443184:I424F	ENSP00000263468:I623F	I	+	1	0	KIAA1377	101338843	0.995000	0.38212	0.784000	0.31847	0.115000	0.19883	3.384000	0.52478	0.952000	0.37798	0.459000	0.35465	ATT	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394140.1		+	ENST00000263468.8	Missense_Mutation	SNP	11 : 101833633 - 101833633 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	217	60
KIF20A	10112	broad.mit.edu	37	5	137518869	137518869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:137518869C>T	ENST00000394894.3	+	8	1070	c.844C>T	c.(844-846)Cga>Tga	p.R282*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	282	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACAAGTCATCGATGGGCACA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	57			NA	NA	5		NA											NA				137518869		2203	4300	6503	SO:0001587	stop_gained			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984	10112	10112		Kinesins	9787	protein-coding gene	gene with protein product		605664	RAB6 interacting, kinesin-like (rabkinesin6)	RAB6KIFL	NA	11416179, 10806357	Standard	NM_005733	NM_005733	NA	Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.844C>T	5.37:g.137518869C>T	ENSP00000378356:p.Arg282*	NA	D3DQB6	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306221	0.60305	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	.	.	.	4.88	2.9	0.33743	.	0.709223	0.11400	N	0.567885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.0424	8.3654	0.32382	0.137:0.7029:0.0:0.1601	.	.	.	.	X	282;264	.	ENSP00000378356:R282X	R	+	1	2	KIF20A	137546768	0.005000	0.15991	0.518000	0.27811	0.964000	0.63967	1.560000	0.36331	1.264000	0.44198	0.655000	0.94253	CGA	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251272.1		+	ENST00000394894.3	Nonsense_Mutation	SNP	5 : 137518869 - 137518869 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	352	83
KIR3DL2	3812	broad.mit.edu	37	19	55363669	55363669	+	Missense_Mutation	SNP	G	G	A	rs148964687	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:55363669G>A	ENST00000326321.3	+	3	320	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R96Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	96	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R96Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TACAGATGTCGGGGTTCACGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											55	50	52			NA	NA	19		NA											NA				55363669		2162	4120	6282	SO:0001583	missense			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403	3812	3812		Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6339	protein-coding gene	gene with protein product		604947			NA	7716543, 8662091	Standard		NM_006737	NA	Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.287G>A	19.37:g.55363669G>A	ENSP00000325525:p.Arg96Gln	NA	Q13238|Q14947|Q14948|Q92684|Q95367	37	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	g	8.265	0.812014	0.16537	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.13657	2.57;2.57	1.03	-0.701	0.11269	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	5.841140	0.01572	U	0.020616	T	0.18425	0.0442	M	0.73372	2.23	0.09310	N	1	D;P	0.59357	0.985;0.938	B;B	0.43386	0.418;0.343	T	0.27191	-1.0081	10	0.66056	D	0.02	.	3.417	0.07380	0.5147:0.0:0.4853:0.0	.	96;96	Q95366;P43630	.;KI3L2_HUMAN	Q	96	ENSP00000325525:R96Q;ENSP00000270442:R96Q	ENSP00000270442:R96Q	R	+	2	0	KIR3DL2	60055481	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-1.794000	0.01753	-0.237000	0.09739	0.184000	0.17185	CGG	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141241.1		+	ENST00000326321.3	Missense_Mutation	SNP	19 : 55363669 - 55363669 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	654	78
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	113	37
KRTAP4-11	653240	broad.mit.edu	37	17	39274042	39274042	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:39274042G>T	ENST00000391413.2	-	1	564	c.526C>A	c.(526-528)Cgc>Agc	p.R176S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	176						keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTTGGGCGATAGCAAGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	64			NA	NA	17		NA											NA				39274042		692	1590	2282	SO:0001583	missense			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721	653240	653240		Keratin associated proteins	18911	protein-coding gene	gene with protein product			keratin associated protein 4-14	KRTAP4-14	NA		Standard		NM_033059	NA	Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.526C>A	17.37:g.39274042G>T	ENSP00000375232:p.Arg176Ser	NA	A0AUY2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.315549	0.40996	.	.	ENSG00000212721	ENST00000391413	T	0.00634	6.07	4.67	4.67	0.58626	.	.	.	.	.	T	0.01695	0.0054	M	0.92169	3.28	0.26903	N	0.967065	B	0.27013	0.166	B	0.19391	0.025	T	0.19128	-1.0315	9	0.45353	T	0.12	.	8.8425	0.35151	0.1037:0.0:0.8963:0.0	.	176	Q9BYQ6	KR411_HUMAN	S	176	ENSP00000375232:R176S	ENSP00000375232:R176S	R	-	1	0	KRTAP4-11	36527568	0.285000	0.24296	0.999000	0.59377	0.950000	0.60333	1.063000	0.30567	2.146000	0.66826	0.609000	0.83330	CGC	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257690.1		-	ENST00000391413.2	Missense_Mutation	SNP	17 : 39274042 - 39274042 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	31	18
L3MBTL2	83746	broad.mit.edu	37	22	41625557	41625557	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:41625557G>A	ENST00000216237.5	+	16	2060	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	634					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGAATCCCGCCCACTAAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	22		NA											NA				41625557		2203	4300	6503	SO:0001819	synonymous_variant			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395	83746	83746			18594	protein-coding gene	gene with protein product		611865			NA	11682070	Standard	NM_031488	NM_031488	NA	Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1902G>A	22.37:g.41625557G>A		NA	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	37	CCDS14011.1																																																																																			L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320613.1		+	ENST00000216237.5	Silent	SNP	22 : 41625557 - 41625557 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	221	74
LIG3	3980	broad.mit.edu	37	17	33318808	33318808	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33318808T>A	ENST00000378526.4	+	6	1293	c.1160T>A	c.(1159-1161)cTc>cAc	p.L387H	LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	387					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTGTCCAAGCTCACCAAGGAG	0.552		NA						Other BER factors						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	62	65			NA	NA	17		NA											NA				33318808		2203	4300	6503	SO:0001583	missense				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156	3980	3980			6600	protein-coding gene	gene with protein product		600940	ligase II, DNA, ATP-dependent	LIG2	NA	7760816	Standard	NM_013975	NM_002311	NA	Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1160T>A	17.37:g.33318808T>A	ENSP00000367787:p.Leu387His	NA	Q16714|Q6NVK3	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480006	0.84747	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.21191	2.02;2.02	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (3);	0.064354	0.64402	D	0.000004	T	0.46444	0.1393	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.957	T	0.38090	-0.9677	10	0.36615	T	0.2	-20.8443	14.9457	0.71029	0.0:0.0:0.0:1.0	.	387;387;387	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	H	387	ENSP00000367787:L387H;ENSP00000262327:L387H	ENSP00000262327:L387H	L	+	2	0	LIG3	30342921	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.672000	0.83956	2.308000	0.77769	0.533000	0.62120	CTC	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250330.3		+	ENST00000378526.4	Missense_Mutation	SNP	17 : 33318808 - 33318808 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	286	8
LMAN1L	79748	broad.mit.edu	37	15	75116728	75116728	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:75116728C>A	ENST00000309664.5	+	13	1499	c.1360C>A	c.(1360-1362)Ccc>Acc	p.P454T	LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	454						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCTGGCCAGCCCCCAAGGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	102	99			NA	NA	15		NA											NA				75116728		2197	4295	6492	SO:0001583	missense			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506	79748	79748			6632	protein-coding gene	gene with protein product		609548			NA	11255007	Standard		NM_021819	NA	Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1360C>A	15.37:g.75116728C>A	ENSP00000310431:p.Pro454Thr	NA	Q6UWN2	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003432	0.19121	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.45276	1.06;0.9	4.95	-3.18	0.05186	.	4.451500	0.00424	N	0.000078	T	0.27205	0.0667	L	0.29908	0.895	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.19391	0.025;0.002	T	0.05194	-1.0900	10	0.26408	T	0.33	.	1.6489	0.02767	0.1359:0.32:0.1328:0.4113	.	442;454	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	T	454;442	ENSP00000310431:P454T;ENSP00000369031:P442T	ENSP00000310431:P454T	P	+	1	0	LMAN1L	72903781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.646000	0.05403	-0.565000	0.06061	-1.288000	0.01363	CCC	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286397.4		+	ENST00000309664.5	Missense_Mutation	SNP	15 : 75116728 - 75116728 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1039	281
LPHN1	22859	broad.mit.edu	37	19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1095					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V1095I(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGTGAAAGACGAAGATGAAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											150	142	145			NA	NA	19		NA											NA				14266197		2203	4300	6503	SO:0001583	missense			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071	22859	22859		-, GPCR / Class B : Orphans	20973	protein-coding gene	gene with protein product					NA	10994649	Standard	NM_014921	NM_014921	NA	Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3283G>A	19.37:g.14266197C>T	ENSP00000340688:p.Val1095Ile	NA	Q96IE7|Q9BU07|Q9HAR3	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	5.280	0.237123	0.10023	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.41065	1.01;1.01	5.21	4.18	0.49190	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.070788	0.56097	D	0.000027	T	0.13200	0.0320	N	0.01529	-0.815	0.40998	D	0.984908	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	7.6688	0.28447	0.0:0.8111:0.0:0.1889	.	1090;1095	O94910-2;O94910	.;LPHN1_HUMAN	I	1095;1090	ENSP00000340688:V1095I;ENSP00000355328:V1090I	ENSP00000340688:V1095I	V	-	1	0	LPHN1	14127197	0.986000	0.35501	0.984000	0.44739	0.998000	0.95712	2.344000	0.44010	1.184000	0.42957	0.561000	0.74099	GTC	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459696.1		-	ENST00000340736.6	Missense_Mutation	SNP	19 : 14266197 - 14266197 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	637	212
LRIG3	121227	broad.mit.edu	37	12	59267907	59267907	+	Silent	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:59267907T>A	ENST00000320743.3	-	18	3331	c.3045A>T	c.(3043-3045)ctA>ctT	p.L1015L	LRIG3_ENST00000379141.4_Silent_p.L955L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1015						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGACTTGTTTAGACACAGAT	0.408		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													76	78	77			NA	NA	12		NA											NA				59267907		2203	4300	6503	SO:0001819	synonymous_variant			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263	121227	121227		Immunoglobulin superfamily / I-set domain containing	30991	protein-coding gene	gene with protein product		608870			NA		Standard	NM_153377	NM_153377	NA	Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3045A>T	12.37:g.59267907T>A		NA	Q6UXL7|Q8NC72	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	7.635	0.679659	0.14907	.	.	ENSG00000139263	ENST00000550825	.	.	.	5.63	-9.02	0.00741	.	.	.	.	.	.	.	.	.	.	.	0.26728	N	0.97065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2731	0.43493	0.0:0.3257:0.4744:0.1999	.	.	.	.	X	117	.	.	K	-	1	0	LRIG3	57554174	0.386000	0.25180	0.082000	0.20525	0.229000	0.25112	-0.728000	0.04925	-2.026000	0.00934	-0.417000	0.06048	AAA	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406623.1		-	ENST00000320743.3	Silent	SNP	12 : 59267907 - 59267907 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	353	16
LRP1B	53353	broad.mit.edu	37	2	141299402	141299402	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:141299402C>T	ENST00000389484.3	-	44	8304	c.7333G>A	c.(7333-7335)Gat>Aat	p.D2445N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2445					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGGAATATCGGAACGAAGA	0.388		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													168	157	161			NA	NA	2		NA											NA				141299402		2203	4299	6502	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7333G>A	2.37:g.141299402C>T	ENSP00000374135:p.Asp2445Asn	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389777	0.95988	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91180	-2.8	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.91788	0.7402	L	0.33668	1.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.64506	0.926	D	0.88927	0.3370	10	0.18276	T	0.48	.	19.2763	0.94032	0.0:1.0:0.0:0.0	.	2445	Q9NZR2	LRP1B_HUMAN	N	2445;2383	ENSP00000374135:D2445N	ENSP00000374135:D2445N	D	-	1	0	LRP1B	141015872	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.771000	0.85420	2.548000	0.85928	0.484000	0.47621	GAT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141299402 - 141299402 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	598	6
LRP6	4040	broad.mit.edu	37	12	12300383	12300383	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:12300383A>G	ENST00000543091.1	-	15	3347	c.3314T>C	c.(3313-3315)aTt>aCt	p.I1105T	LRP6_ENST00000261349.4_Missense_Mutation_p.I1105T			O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1105	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCTAAAGCAATTGGTTTACT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	127	126			NA	NA	12		NA											NA				12300383		2203	4300	6503	SO:0001583	missense			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018	4040	4040		Low density lipoprotein receptors	6698	protein-coding gene	gene with protein product		603507			NA	9704021	Standard		NM_002336	NA	Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000543091.1:c.3314T>C	12.37:g.12300383A>G	ENSP00000442472:p.Ile1105Thr	NA	Q17RZ2	37		.	.	.	.	.	.	.	.	.	.	A	7.457	0.643887	0.14451	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95588	-3.75;-3.75	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.519638	0.17309	U	0.178962	D	0.84338	0.5450	N	0.00569	-1.365	0.50171	D	0.999857	B;B	0.15141	0.007;0.012	B;B	0.23419	0.046;0.036	T	0.81077	-0.1096	10	0.11182	T	0.66	.	15.9477	0.79806	1.0:0.0:0.0:0.0	.	1105;1105	F5H7J9;O75581	.;LRP6_HUMAN	T	1105	ENSP00000261349:I1105T;ENSP00000442472:I1105T	ENSP00000261349:I1105T	I	-	2	0	LRP6	12191650	0.964000	0.33143	0.960000	0.40013	0.960000	0.62799	8.962000	0.93254	2.179000	0.69175	0.460000	0.39030	ATT	LRP6-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400140.1		-	ENST00000543091.1	Missense_Mutation	SNP	12 : 12300383 - 12300383 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	762	201
LUZP1	7798	broad.mit.edu	37	1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	rs146031719	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	143	140		2251,2251	3.4	1	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641	7798	7798			14985	protein-coding gene	gene with protein product		601422			NA	8812416	Standard	NM_033631	NM_033631	NA	Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp	NA	Q5TH93|Q8N4X3|Q8TEH1	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	LUZP1	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008900.3		-	ENST00000302291.4	Missense_Mutation	SNP	1 : 23418504 - 23418504 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	723	5
LUZP1	7798	broad.mit.edu	37	1	23420152	23420159	+	Frame_Shift_Del	DEL	ATTCAAGT	ATTCAAGT	-			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	ATTCAAGT	ATTCAAGT	-	-	ATTCAAGT	ATTCAAGT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23420152_23420159delATTCAAGT	ENST00000302291.4	-	4	1397_1404	c.596_603delACTTGAAT	c.(595-603)tacttgaatfs	p.YLN199fs	LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	199						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCTCCTTTTCATTCAAGTATTTTCTCTC	0.351		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			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641	7798	7798			14985	protein-coding gene	gene with protein product		601422			NA	8812416	Standard	NM_033631	NM_033631	NA	Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.596_603delACTTGAAT	1.37:g.23420152_23420159delATTCAAGT	ENSP00000303758:p.Tyr199fs	NA	Q5TH93|Q8N4X3|Q8TEH1	37	CCDS30628.1																																																																																			LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008900.3		-	ENST00000302291.4	Frame_Shift_Del	DEL	1 : 23420152 - 23420159 - PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	192	39
MAST2	23139	broad.mit.edu	37	1	46491369	46491369	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:46491369C>T	ENST00000361297.2	+	16	2084	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	MAST2_ENST00000372009.2_Silent_p.L531L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	601	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGCCACTCTGCTGAAGAATAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	113	110			NA	NA	1		NA											NA				46491369		2179	4290	6469	SO:0001819	synonymous_variant			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015	23139	23139			19035	protein-coding gene	gene with protein product		612257			NA		Standard	NM_015112	NM_015112	NA	Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1801C>T	1.37:g.46491369C>T		NA	O94899|Q5VT07|Q5VT08|Q7LGC4|Q8NDG1|Q96B94|Q9BYE8	37	CCDS41326.1																																																																																			MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021977.1		+	ENST00000361297.2	Silent	SNP	1 : 46491369 - 46491369 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	322	145
ME3	10873	broad.mit.edu	37	11	86158183	86158183	+	Missense_Mutation	SNP	C	C	T	rs15926		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:86158183C>T	ENST00000393324.3	-	11	1557	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	ME3_ENST00000359636.2_Missense_Mutation_p.R435H|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.R435H	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	435					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GATGATAGGGCGCTCGTGGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	73	76			NA	NA	11		NA											NA				86158183		2202	4299	6501	SO:0001583	missense			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	10873	10873	1.1.1.40		6985	protein-coding gene	gene with protein product		604626			NA	7818469	Standard		NM_001161586	NA	Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1304G>A	11.37:g.86158183C>T	ENSP00000376998:p.Arg435His	NA		37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025030	0.35701	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.38	3.42	0.39159	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098256	0.64402	N	0.000002	T	0.48926	0.1527	M	0.81802	2.56	0.80722	D	1	B	0.19331	0.035	B	0.21546	0.035	T	0.43343	-0.9397	9	.	.	.	.	11.3629	0.49655	0.0:0.845:0.0:0.155	.	435	Q16798	MAON_HUMAN	H	435	ENSP00000352657:R435H;ENSP00000440246:R435H;ENSP00000376998:R435H;ENSP00000431182:R435H	.	R	-	2	0	ME3	85835831	1.000000	0.71417	0.997000	0.53966	0.096000	0.18686	3.210000	0.51129	0.683000	0.31428	-0.355000	0.07637	CGC	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393767.2		-	ENST00000393324.3	Missense_Mutation	SNP	11 : 86158183 - 86158183 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	319	111
MECOM	2122	broad.mit.edu	37	3	168845679	168845679	+	Silent	SNP	C	C	T	rs150481592		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:168845679C>T	ENST00000464456.1	-	4	1419	c.219G>A	c.(217-219)acG>acA	p.T73T	MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000494292.1_Silent_p.T261T|MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000468789.1_Silent_p.T73T|MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000472280.1_Silent_p.T73T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCTGGATCGTGTGTATCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,	4,4402	8.1+/-20.4	0,4,2199	176	165	169		411,219,219,219,219,783,219	-2.1	0	3	dbSNP_134	169	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	,,,,,,	0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308	,,,,,,	137/1117,73/1052,73/1044,73/1043,73/1052,261/1240,73/1052	168845679	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.219G>A	3.37:g.168845679C>T		NA	Q13466|Q6FH90	37	CCDS54669.1																																																																																			MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Silent	SNP	3 : 168845679 - 168845679 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	872	234
MGAT4C	25834	broad.mit.edu	37	12	86374022	86374022	+	Missense_Mutation	SNP	G	G	A	rs140499591		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:86374022G>A	ENST00000604798.1	-	8	1686	c.482C>T	c.(481-483)gCg>gTg	p.A161V	MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	161					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATATGGTGCGCAAATTTCTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	93	91	92		482	3.7	0.6	12	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MGAT4C	NM_013244.3	64	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	161/479	86374022	2,13004	2203	4300	6503	SO:0001583	missense				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050	25834	25834		Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	30871	protein-coding gene	gene with protein product		607385	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)		NA	10570912	Standard	NM_013244	NM_013244	NA	Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.482C>T	12.37:g.86374022G>A	ENSP00000474896:p.Ala161Val	NA	Q4G199|Q9UIU5	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293358	0.40594	2.27E-4	1.16E-4	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.58	3.67	0.42095	.	0.272302	0.36134	N	0.002770	D	0.88916	0.6567	M	0.66939	2.045	0.32647	N	0.519858	D;D	0.69078	0.997;0.997	P;P	0.62560	0.904;0.904	D	0.89173	0.3538	10	0.26408	T	0.33	-7.7201	12.7018	0.57038	0.0:0.1257:0.7434:0.1309	.	190;161	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	V	161;190;161;161;161;161;161	ENSP00000331664:A161V;ENSP00000376900:A190V;ENSP00000449022:A161V;ENSP00000446647:A161V;ENSP00000447253:A161V;ENSP00000449172:A161V	ENSP00000331664:A161V	A	-	2	0	MGAT4C	84898153	1.000000	0.71417	0.635000	0.29338	0.003000	0.03518	6.447000	0.73465	1.321000	0.45227	0.655000	0.94253	GCG	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406212.2		-	ENST00000604798.1	Missense_Mutation	SNP	12 : 86374022 - 86374022 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	477	5
MICU3	286097	broad.mit.edu	37	8	16963071	16963071	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:16963071G>A	ENST00000318063.5	+	11	1277	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3	NA								p.R412H(1)			NA						GAAAATGTGCGTTACAGTATA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											58	60	59			NA	NA	8		NA											NA				16963071		2198	4296	6494	SO:0001583	missense			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970	286097	286097		EF-hand domain containing	27820	protein-coding gene	gene with protein product		610633	EF hand domain family A2, EF-hand domain family, member A2	EFHA2	NA	23409044	Standard	NM_181723	NM_181723	NA	Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1235G>A	8.37:g.16963071G>A	ENSP00000321455:p.Arg412His	NA		37	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.245739|2.245739	0.39697|0.39697	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.29397|.	1.57|.	4.99|4.99	4.11|4.11	0.48088|0.48088	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B|.	0.24618|.	0.107|.	B|.	0.12156|.	0.007|.	T|T	0.50065|0.50065	-0.8871|-0.8871	10|5	0.44086|.	T|.	0.13|.	-6.0062|-6.0062	11.508|11.508	0.50479|0.50479	0.1483:0.0:0.8517:0.0|0.1483:0.0:0.8517:0.0	.|.	412|.	Q86XE3|.	EFHA2_HUMAN|.	H|I	412|257	ENSP00000321455:R412H|.	ENSP00000321455:R412H|.	R|V	+|+	2|1	0|0	EFHA2|EFHA2	17007442|17007442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.353000|5.353000	0.66034|0.66034	1.409000|1.409000	0.46915|0.46915	0.650000|0.650000	0.86243|0.86243	CGT|GTT	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214031.1		+	ENST00000318063.5	Missense_Mutation	SNP	8 : 16963071 - 16963071 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	104	39
MND1	84057	broad.mit.edu	37	4	154318479	154318479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:154318479G>T	ENST00000504860.1	+	5	458	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	MND1_ENST00000240488.3_Nonsense_Mutation_p.E154*			Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	154					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AGTTGTGGAAGAAATACGTAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	79	81			NA	NA	4		NA											NA				154318479		2203	4300	6503	SO:0001587	stop_gained			AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211	84057	84057			24839	protein-coding gene	gene with protein product		611422			NA	11940665	Standard	NM_032117	NM_032117	NA	Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.415G>T	4.37:g.154318479G>T	ENSP00000422933:p.Glu139*	NA	B2R5F9	37		.	.	.	.	.	.	.	.	.	.	G	18.67	3.673305	0.67928	.	.	ENSG00000121211	ENST00000240488;ENST00000504860	.	.	.	5.44	5.44	0.79542	.	0.090339	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-33.0793	16.5451	0.84443	0.0:0.0:1.0:0.0	.	.	.	.	X	154;139	.	ENSP00000240488:E154X	E	+	1	0	MND1	154537929	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.502000	0.73695	2.690000	0.91761	0.555000	0.69702	GAA	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365195.1		+	ENST00000504860.1	Nonsense_Mutation	SNP	4 : 154318479 - 154318479 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	62	11
MOCS1	4337	broad.mit.edu	37	6	39881079	39881079	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:39881079C>G	ENST00000373186.4	-	5	876	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E247Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	247	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCATATACTCTATGAAGCGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)							NA				0													95	81	86			NA	NA	6		NA											NA				39881079		2203	4300	6503	SO:0001583	missense			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615	4337	4337			7190	protein-coding gene	gene with protein product		603707			NA	9731530, 10053004	Standard	NM_005943	NM_001075098	NA	Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000373186.4:c.739G>C	6.37:g.39881079C>G	ENSP00000362282:p.Glu247Gln	NA	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	37	CCDS4846.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801911	0.90538	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69	4.68	4.68	0.58851	Elongator protein 3/MiaB/NifB (1);Molybdenum cofactor synthesis C-terminal (1);Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99984	5.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.999;0.998;0.997	D	0.97279	0.9916	9	.	.	.	-29.1172	17.2165	0.86945	0.0:1.0:0.0:0.0	.	247;247;247;247;247	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	Q	247;247;218;247;160;247;247;218	ENSP00000362282:E247Q;ENSP00000309843:E247Q;ENSP00000362270:E218Q;ENSP00000362284:E247Q;ENSP00000362291:E160Q;ENSP00000344794:E247Q;ENSP00000416478:E247Q;ENSP00000410809:E218Q	.	E	-	1	0	MOCS1	39989057	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.783000	0.85696	2.166000	0.68216	0.655000	0.94253	GAG	MOCS1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040472.2		-	ENST00000373186.4	Missense_Mutation	SNP	6 : 39881079 - 39881079 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	336	87
MPHOSPH8	54737	broad.mit.edu	37	13	20221309	20221309	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:20221309C>G	ENST00000361479.5	+	3	1164	c.1096C>G	c.(1096-1098)Caa>Gaa	p.Q366E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	366					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAGGAATCAAGACAGAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	48			NA	NA	13		NA											NA				20221309		2203	4300	6503	SO:0001583	missense			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199	54737	54737		Ankyrin repeat domain containing	29810	protein-coding gene	gene with protein product		611626			NA	8885239	Standard	NM_017520	NM_017520	NA	Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1096C>G	13.37:g.20221309C>G	ENSP00000355388:p.Gln366Glu	NA	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.005	0.756354	0.15846	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.35048	1.34;1.33	5.61	5.61	0.85477	.	1.796160	0.02353	N	0.076114	T	0.48077	0.1480	L	0.58101	1.795	0.41991	D	0.990848	P;B;P;B	0.41131	0.739;0.435;0.571;0.435	B;B;B;B	0.40782	0.34;0.15;0.225;0.152	T	0.49341	-0.8950	10	0.25106	T	0.35	.	19.6274	0.95684	0.0:1.0:0.0:0.0	.	366;366;366;366	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	E	366	ENSP00000414663:Q366E;ENSP00000355388:Q366E	ENSP00000355388:Q366E	Q	+	1	0	MPHOSPH8	19119309	1.000000	0.71417	0.852000	0.33557	0.180000	0.23129	4.294000	0.59043	2.634000	0.89283	0.585000	0.79938	CAA	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044028.2		+	ENST00000361479.5	Missense_Mutation	SNP	13 : 20221309 - 20221309 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	162	42
MUC13	56667	broad.mit.edu	37	3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	324	EGF-like 2.					extracellular region|integral to membrane|plasma membrane		p.R324W(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATCACACCGAAGGGTCACT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											72	68	69			NA	NA	3		NA											NA				124632520		2203	4300	6503	SO:0001583	missense			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702	56667	56667		Mucins	7511	protein-coding gene	gene with protein product		612181	down-regulated in colon cancer 1, mucin 13, epithelial transmembrane	DRCC1	NA	11278439	Standard	NM_033049	NM_033049	NA	Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.970C>T	3.37:g.124632520G>A	ENSP00000312235:p.Arg324Trp	NA	Q6UWD9|Q9NXT5	37		.	.	.	.	.	.	.	.	.	.	G	11.76	1.733931	0.30684	.	.	ENSG00000173702	ENST00000311075	D	0.87491	-2.26	3.93	-4.04	0.04010	.	3.072470	0.01105	N	0.005470	D	0.89329	0.6684	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.79112	-0.1937	10	0.66056	D	0.02	0.2081	4.6867	0.12760	0.4045:0.0:0.3619:0.2336	.	324	Q9H3R2	MUC13_HUMAN	W	324	ENSP00000312235:R324W	ENSP00000312235:R324W	R	-	1	2	MUC13	126115210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.076000	0.11412	-1.421000	0.02007	-2.157000	0.00329	CGG	MUC13-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000355714.1		-	ENST00000311075.3	Missense_Mutation	SNP	3 : 124632520 - 124632520 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	347	9
MURC	347273	broad.mit.edu	37	9	103340638	103340638	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:103340638C>T	ENST00000307584.5	+	1	278	c.213C>T	c.(211-213)gaC>gaT	p.D71D		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	71					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TCCAGATTGACCTGTTGAAGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	148	145			NA	NA	9		NA											NA				103340638		2203	4300	6503	SO:0001819	synonymous_variant			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681	347273	347273			33742	protein-coding gene	gene with protein product	muscle-restricted coiled-coil protein				NA	18508909, 18332105	Standard	NM_001018116	NM_001018116	NA	Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.213C>T	9.37:g.103340638C>T		NA	B1PRL3|B4DT88	37	CCDS35083.1																																																																																			MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053419.2		+	ENST00000307584.5	Silent	SNP	9 : 103340638 - 103340638 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	481	12
MYLK3	91807	broad.mit.edu	37	16	46781922	46781922	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:46781922G>A	ENST00000536476.1	-	2	207				MYLK3_ENST00000394809.4_Missense_Mutation_p.R62W			Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	NA					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.R62W(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGCAGGCCCCGCTCCAGGTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(2)						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	37	39	39		184	1.7	1	16		39	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYLK3	NM_182493.2	101	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	possibly-damaging	62/820	46781922	2,13004	2203	4300	6503	SO:0001627	intron_variant			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795	91807	91807			29826	protein-coding gene	gene with protein product	MLC kinase	612147			NA	17885681	Standard	NM_182493	NM_182493	NA	Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000536476.1:c.113-7863C>T	16.37:g.46781922G>A		NA	Q32MK1|Q96DV1	37		.	.	.	.	.	.	.	.	.	.	G	11.63	1.694724	0.30052	2.27E-4	1.16E-4	ENSG00000140795	ENST00000394809	T	0.73152	-0.72	5.09	1.66	0.24008	.	0.248315	0.21157	N	0.079230	T	0.61022	0.2314	L	0.29908	0.895	0.09310	N	0.999997	D	0.63880	0.993	P	0.47470	0.548	T	0.55854	-0.8075	10	0.72032	D	0.01	.	9.4835	0.38915	0.0:0.1113:0.4457:0.443	.	62	Q32MK0	MYLK3_HUMAN	W	62	ENSP00000378288:R62W	ENSP00000378288:R62W	R	-	1	2	MYLK3	45339423	0.991000	0.36638	0.963000	0.40424	0.003000	0.03518	0.984000	0.29565	0.466000	0.27193	-0.500000	0.04577	CGG	MYLK3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000430610.3		-	ENST00000536476.1	Intron	SNP	16 : 46781922 - 46781922 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	184	66
MYT1L	23040	broad.mit.edu	37	2	1982980	1982980	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:1982980C>T	ENST00000399161.2	-	8	856	c.109G>A	c.(109-111)Gac>Aac	p.D37N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCACTGCCGTCACAGCCAGGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	2		NA											NA				1982980		2196	4297	6493	SO:0001583	missense			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487	23040	23040		Zinc fingers, C2HC-type containing	7623	protein-coding gene	gene with protein product	neural zinc finger transcription factor 1	613084			NA	9373037	Standard	NM_015025	XM_006711862	NA	Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.109G>A	2.37:g.1982980C>T	ENSP00000382114:p.Asp37Asn	NA	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935617	0.73442	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.138574	0.46442	D	0.000293	T	0.52517	0.1739	N	0.24115	0.695	0.58432	D	0.999996	D;D	0.69078	0.997;0.996	D;D	0.77004	0.989;0.981	T	0.55749	-0.8092	10	0.51188	T	0.08	-38.9835	18.6852	0.91560	0.0:1.0:0.0:0.0	.	37;37	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	37	ENSP00000382114:D37N;ENSP00000396103:D37N	ENSP00000295067:D37N	D	-	1	0	MYT1L	1961987	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.604000	0.74150	2.405000	0.81733	0.655000	0.94253	GAC	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000322493.1		-	ENST00000399161.2	Missense_Mutation	SNP	2 : 1982980 - 1982980 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	117	42
NADSYN1	55191	broad.mit.edu	37	11	71194032	71194032	+	Missense_Mutation	SNP	C	C	T	rs149234649		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:71194032C>T	ENST00000319023.2	+	14	1476	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	p.R430M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACGTGCACCCGGGCCAGAGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(79;763 1781 6490 50276)							NA				1	Substitution - Missense(1)	lung(1)						C	TRP/ARG	0,4400		0,0,2200	97	87	90		1288	-1.9	0	11	dbSNP_134	90	3,8585	3.0+/-9.4	0,3,4291	yes	missense	NADSYN1	NM_018161.4	101	0,3,6491	TT,TC,CC	NA	0.0349,0.0,0.0231	probably-damaging	430/707	71194032	3,12985	2200	4294	6494	SO:0001583	missense			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890	55191	55191			29832	protein-coding gene	gene with protein product		608285			NA	12547821	Standard	NM_018161	NM_018161	NA	Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1288C>T	11.37:g.71194032C>T	ENSP00000326424:p.Arg430Trp	NA	Q86SN2|Q9HA25|Q9NVM8	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400419	0.42613	0.0	3.49E-4	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.06	-1.88	0.07713	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	H	0.94808	3.585	0.49798	D	0.999826	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	T	0.73780	-0.3875	10	0.87932	D	0	-26.347	12.5193	0.56050	0.3856:0.6144:0.0:0.0	.	170;430	B3KUU4;Q6IA69	.;NADE_HUMAN	W	430;170;59;59	ENSP00000326424:R430W;ENSP00000443718:R170W;ENSP00000437172:R59W;ENSP00000431820:R59W	ENSP00000326424:R430W	R	+	1	2	NADSYN1	70871680	0.927000	0.31430	0.007000	0.13788	0.216000	0.24613	0.660000	0.25009	-0.610000	0.05716	-0.397000	0.06425	CGG	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394356.1		+	ENST00000319023.2	Missense_Mutation	SNP	11 : 71194032 - 71194032 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	473	41
NCAPH	23397	broad.mit.edu	37	2	97007560	97007560	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:97007560G>A	ENST00000455200.1	+	2	462	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.R67Q			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	67					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CGGCTGCAGCGGAGGCGCTCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	82	79			NA	NA	2		NA											NA				97007560		2203	4300	6503	SO:0001583	missense			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152	23397	23397			1112	protein-coding gene	gene with protein product		602332	barren (Drosophila) homolog, barren homolog (Drosophila), barren homolog 1 (Drosophila)	BRRN1	NA	9417923	Standard	NM_015341	NM_015341	NA	Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000455200.1:c.167G>A	2.37:g.97007560G>A	ENSP00000407308:p.Arg56Gln	NA	Q8TB87	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.639751	0.87760	.	.	ENSG00000121152	ENST00000240423;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.66	4.78	0.61160	.	0.106857	0.64402	N	0.000006	T	0.71467	0.3343	M	0.80183	2.485	0.48975	D	0.999732	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74595	-0.3613	10	0.66056	D	0.02	-21.3725	10.5775	0.45235	0.0891:0.0:0.9109:0.0	.	43;56;56;67	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Q	67;56;67;56	ENSP00000240423:R67Q;ENSP00000405237:R56Q;ENSP00000401227:R67Q;ENSP00000407308:R56Q	ENSP00000240423:R67Q	R	+	2	0	NCAPH	96371287	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	8.515000	0.90548	1.400000	0.46741	0.650000	0.86243	CGG	NCAPH-005	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338875.1		+	ENST00000455200.1	Missense_Mutation	SNP	2 : 97007560 - 97007560 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	787	178
NDUFB3	4709	broad.mit.edu	37	2	201943722	201943722	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:201943722A>G	ENST00000237889.4	+	2	440	c.117A>G	c.(115-117)aaA>aaG	p.K39K	NDUFB3_ENST00000433898.1_Silent_p.K39K|NDUFB3_ENST00000454214.1_Silent_p.K39K	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	39					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	TGGCTGCAAAAGGGCTAAGGG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	77	76			NA	NA	2		NA											NA				201943722		2203	4300	6503	SO:0001819	synonymous_variant			AF047183	CCDS2336.1	2q33.1	2011-07-04	2002-08-29		ENSG00000119013	ENSG00000119013	4709	4709		Mitochondrial respiratory chain complex / Complex I	7698	protein-coding gene	gene with protein product	complex I B12 subunit	603839	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)		NA	9425316, 11474204	Standard	NM_002491	NM_002491	NA	Approved	B12	uc002uwx.4	O43676	OTTHUMG00000132820	ENST00000237889.4:c.117A>G	2.37:g.201943722A>G		NA		37	CCDS2336.1																																																																																			NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256277.1		+	ENST00000237889.4	Silent	SNP	2 : 201943722 - 201943722 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	213	4
NELL2	4753	broad.mit.edu	37	12	45169879	45169879	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45169879T>A	ENST00000429094.2	-	8	1321	c.817A>T	c.(817-819)Act>Tct	p.T273S	NELL2_ENST00000452445.2_Missense_Mutation_p.T273S|NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S|NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000333837.4_Missense_Mutation_p.T296S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	273	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATGGTGCAAGTCCTTTCACAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	150	159			NA	NA	12		NA											NA				45169879		2203	4300	6503	SO:0001583	missense			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613	4753	4753			7751	protein-coding gene	gene with protein product		602320	nel (chicken)-like 2		NA	19249368	Standard	NM_006159	NM_006159	NA	Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.817A>T	12.37:g.45169879T>A	ENSP00000390680:p.Thr273Ser	NA		37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935303	0.34189	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	von Willebrand factor, type C (1);	0.050756	0.85682	D	0.000000	T	0.38878	0.1057	N	0.13003	0.285	0.52099	D	0.999945	B;B;B;B;B;B	0.30824	0.01;0.296;0.045;0.036;0.027;0.185	B;B;B;B;B;B	0.24006	0.003;0.05;0.038;0.012;0.017;0.034	T	0.34428	-0.9829	10	0.10111	T	0.7	-16.8894	10.9681	0.47424	0.1394:0.0:0.0:0.8606	.	296;323;272;273;273;272	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	272;273;272;273;272;296;323;272;46;273	ENSP00000378866:T272S;ENSP00000390680:T273S;ENSP00000449332:T272S;ENSP00000394612:T273S;ENSP00000447927:T272S;ENSP00000327988:T296S;ENSP00000416341:T323S;ENSP00000450102:T46S;ENSP00000447085:T273S	ENSP00000327988:T296S	T	-	1	0	NELL2	43456146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.818000	0.69236	2.137000	0.66172	0.528000	0.53228	ACT	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404180.1		-	ENST00000429094.2	Missense_Mutation	SNP	12 : 45169879 - 45169879 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	308	72
NF1	4763	broad.mit.edu	37	17	29665118	29665118	+	Silent	SNP	T	T	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29665118T>G	ENST00000358273.4	+	45	7163	c.6780T>G	c.(6778-6780)tcT>tcG	p.S2260S	NF1_ENST00000356175.3_Silent_p.S2239S|NF1_ENST00000444181.2_Silent_p.S53S|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2260					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACGAGTGTCTCATGGGCAGA	0.403		NA	D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											161	154	156			NA	NA	17		NA											NA				29665118		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712	4763	4763			7765	protein-coding gene	gene with protein product	neurofibromatosis, von Recklinghausen disease, Watson disease	613113			NA	1715669	Standard	NM_000267	NM_000267	NA	Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6780T>G	17.37:g.29665118T>G		NA	O00662|Q14284|Q14930|Q9UMK3	37	CCDS42292.1																																																																																			NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256351.2		+	ENST00000358273.4	Silent	SNP	17 : 29665118 - 29665118 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	933	76
NIPA2	81614	broad.mit.edu	37	15	23006789	23006789	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:23006789C>T	ENST00000337451.3	-	8	1127	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H|NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	172						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTGTCCATGGCGAGGACCCAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	63	66			NA	NA	15		NA											NA				23006789		2203	4300	6503	SO:0001583	missense			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157	81614	81614			17044	protein-coding gene	gene with protein product		608146			NA	14508708	Standard	NM_030922	NM_001008860	NA	Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.515G>A	15.37:g.23006789C>T	ENSP00000337618:p.Arg172His	NA	Q96F03|Q9BVS2	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097751	0.56075	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.91740	-2.9;-2.9;-2.9	5.65	3.79	0.43588	.	0.047323	0.85682	D	0.000000	D	0.91646	0.7360	M	0.81614	2.55	0.80722	D	1	P;P	0.38020	0.615;0.562	B;B	0.37888	0.17;0.26	D	0.90560	0.4515	10	0.59425	D	0.04	-18.3833	12.5884	0.56430	0.0:0.8679:0.0:0.1321	.	153;172	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	H	172;172;153;172;153	ENSP00000337618:R172H;ENSP00000381096:R172H;ENSP00000352762:R153H	ENSP00000337618:R172H	R	-	2	0	NIPA2	20558230	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.882000	0.63121	0.871000	0.35750	-0.768000	0.03414	CGC	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251137.1		-	ENST00000337451.3	Missense_Mutation	SNP	15 : 23006789 - 23006789 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	253	126
NISCH	11188	broad.mit.edu	37	3	52523640	52523640	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:52523640C>T	ENST00000479054.1	+	18	3474	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_ENST00000345716.4_Silent_p.V1134V			Q9Y2I1	NISCH_HUMAN	nischarin	1134					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCGGCACGTCGCCAGCCTGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	55			NA	NA	3		NA											NA				52523640		2203	4298	6501	SO:0001819	synonymous_variant			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322	11188	11188			18006	protein-coding gene	gene with protein product	imidazoline receptor candidate, I-1 receptor candidate protein, imidazoline receptor antisera selected	615507			NA	11912194, 10882231	Standard	NM_007184	NM_007184	NA	Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3402C>T	3.37:g.52523640C>T		NA	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	37	CCDS33767.1																																																																																			NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351357.1		+	ENST00000479054.1	Silent	SNP	3 : 52523640 - 52523640 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	612	87
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	89	84			NA	NA	11		NA											NA				281566		2203	4299	6502	SO:0001583	missense			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885	171389	171389		Nucleotide-binding domain and leucine rich repeat containing	22944	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6	609650	NACHT, leucine rich repeat and PYD containing 6	NALP6	NA	12563287, 12019269	Standard	NM_138329	NM_138329	NA	Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000534750.1:c.1832A>G	11.37:g.281566A>G	ENSP00000433617:p.Glu611Gly	NA	A8K9F3	37		.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG	NLRP6-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385707.1		+	ENST00000534750.1	Missense_Mutation	SNP	11 : 281566 - 281566 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	786	6
NLRP9	338321	broad.mit.edu	37	19	56243922	56243922	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:56243922G>A	ENST00000332836.2	-	2	1302	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	425	NACHT.		G -> D (in a breast cancer sample; somatic mutation).			cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCCACATCACGCCCTCAGACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	99	99			NA	NA	19		NA											NA				56243922		2203	4300	6503	SO:0001819	synonymous_variant			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08			338321	338321		Nucleotide-binding domain and leucine rich repeat containing	22941	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9	609663	NACHT, leucine rich repeat and PYD containing 9	NALP9	NA	12563287	Standard	NM_176820	NM_176820	NA	Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1275C>T	19.37:g.56243922G>A		NA	B2RN12|Q86W27	37	CCDS12934.1																																																																																			NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453653.1		-	ENST00000332836.2	Silent	SNP	19 : 56243922 - 56243922 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	746	206
NNT	23530	broad.mit.edu	37	5	43651892	43651892	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:43651892A>G	ENST00000264663.5	+	13	1990	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	NNT_ENST00000344920.4_Missense_Mutation_p.D590G|NNT_ENST00000512996.2_Missense_Mutation_p.D459G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	590					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CGTCCCACTGACCCCCCAGAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	160	160			NA	NA	5		NA											NA				43651892		2203	4300	6503	SO:0001583	missense			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	23530	23530	1.6.1.1		7863	protein-coding gene	gene with protein product		607878			NA	9271681, 9524818	Standard	NM_182977	NM_182977	NA	Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1769A>G	5.37:g.43651892A>G	ENSP00000264663:p.Asp590Gly	NA	Q16796|Q2TB60|Q8N3V4	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854509	0.91355	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.96459	-4.02;-4.02;-3.87	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.99285	1.0897	10	0.87932	D	0	-27.7305	15.8513	0.78934	1.0:0.0:0.0:0.0	.	590	Q13423	NNTM_HUMAN	G	105;590;590;459	ENSP00000264663:D590G;ENSP00000343873:D590G;ENSP00000426343:D459G	ENSP00000264663:D590G	D	+	2	0	NNT	43687649	1.000000	0.71417	0.816000	0.32577	0.983000	0.72400	8.962000	0.93254	2.152000	0.67230	0.533000	0.62120	GAC	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214026.1		+	ENST00000264663.5	Missense_Mutation	SNP	5 : 43651892 - 43651892 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	948	9
NOSTRIN	115677	broad.mit.edu	37	2	169716142	169716142	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:169716142G>C	ENST00000458381.2	+	18	2103	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E392Q|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q	NM_001171631.1	NP_001165102.1	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	392	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGTGGAGGGAAAAGGTAAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	119	121			NA	NA	2		NA											NA				169716142		1914	4130	6044	SO:0001583	missense			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072	115677	115677			20203	protein-coding gene	gene with protein product		607496	nitric oxide synthase trafficker		NA	12446846	Standard	NM_052946	NM_001171631	NA	Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000458381.2:c.1345G>C	2.37:g.169716142G>C	ENSP00000402140:p.Glu449Gln	NA	A8K2I9|Q27HG3|Q53S62|Q96CJ9	37	CCDS54415.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127768	0.77549	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.38560	1.3;1.3;1.13;1.32;1.32;1.33;1.33	5.3	5.3	0.74995	.	0.162747	0.53938	D	0.000056	T	0.59649	0.2209	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.64830	0.98;0.991;0.994;0.994;0.969;0.987	P;P;P;P;P;P	0.58331	0.663;0.837;0.798;0.783;0.599;0.776	T	0.56275	-0.8006	10	0.28530	T	0.3	-0.2101	16.7834	0.85568	0.0:0.0:1.0:0.0	.	364;314;449;286;392;449	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	Q	449;449;392;314;314;364;364	ENSP00000402140:E449Q;ENSP00000394051:E449Q;ENSP00000318921:E392Q;ENSP00000404413:E314Q;ENSP00000380390:E314Q;ENSP00000380392:E364Q;ENSP00000401316:E364Q	ENSP00000318921:E392Q	E	+	1	0	NOSTRIN	169424388	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.770000	0.74990	2.630000	0.89119	0.655000	0.94253	GAA	NOSTRIN-002	NOVEL	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333357.3		+	ENST00000458381.2	Missense_Mutation	SNP	2 : 169716142 - 169716142 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	520	6
NOTCH1	4851	broad.mit.edu	37	9	139412298	139412298	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:139412298G>A	ENST00000277541.6	-	8	1422	c.1347C>T	c.(1345-1347)tgC>tgT	p.C449C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCGATCTCGCATCGGGGGC	0.647		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													51	58	56			NA	NA	9		NA											NA				139412298		2180	4271	6451	SO:0001819	synonymous_variant			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1347C>T	9.37:g.139412298G>A		NA	Q59ED8|Q5SXM3	37	CCDS43905.1																																																																																			NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Silent	SNP	9 : 139412298 - 139412298 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	413	104
NOVA1	4857	broad.mit.edu	37	14	26917998	26917998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:26917998G>A	ENST00000539517.2	-	5	1008	c.691C>T	c.(691-693)Cga>Tga	p.R231*	NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*|NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	234	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACAGCTTTTCGGTTTTGTTCA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	215	223			NA	NA	14		NA											NA				26917998		2203	4300	6503	SO:0001587	stop_gained			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910	4857	4857			7886	protein-coding gene	gene with protein product		602157			NA	8558240	Standard	NM_006491	NM_006489	NA	Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.691C>T	14.37:g.26917998G>A	ENSP00000438875:p.Arg231*	NA	A8K0S4|A8K4Q7|D3DS82|Q6B004	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	38	6.801762	0.97849	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-3.4817	19.8956	0.96956	0.0:0.0:1.0:0.0	.	.	.	.	X	207;231;109;190;85	.	ENSP00000267422:R109X	R	-	1	2	NOVA1	25987838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.708000	0.92522	0.563000	0.77884	CGA	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073261.3		-	ENST00000539517.2	Nonsense_Mutation	SNP	14 : 26917998 - 26917998 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	546	6
NRP2	8828	broad.mit.edu	37	2	206581077	206581077	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:206581077C>T	ENST00000360409.3	+	3	1203	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	NRP2_ENST00000412873.2_Missense_Mutation_p.R138C|NRP2_ENST00000272849.3_Missense_Mutation_p.R138C|NRP2_ENST00000357785.5_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000417189.1_Missense_Mutation_p.R138C|NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	138	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTTCTCTCTGCGCTACGAGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	2		NA											NA				206581077		2203	4300	6503	SO:0001583	missense			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000360409.3:c.412C>T	2.37:g.206581077C>T	ENSP00000353582:p.Arg138Cys	NA	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331934	0.95733	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	6.17	6.17	0.99709	CUB (5);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D	0.79108	0.983;0.983;0.9;0.992;0.992;0.971	T	0.65187	-0.6229	10	0.87932	D	0	-22.1386	20.8794	0.99867	0.0:1.0:0.0:0.0	.	138;138;138;138;138;138	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	138	ENSP00000353582:R138C;ENSP00000439658:R138C;ENSP00000439261:R138C;ENSP00000347238:R138C;ENSP00000387519:R138C;ENSP00000349632:R138C;ENSP00000350432:R138C;ENSP00000407626:R138C;ENSP00000272849:R138C	ENSP00000272849:R138C	R	+	1	0	NRP2	206289322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC	NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Missense_Mutation	SNP	2 : 206581077 - 206581077 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	519	6
NSUN3	63899	broad.mit.edu	37	3	93783283	93783283	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:93783283G>A	ENST00000314622.4	+	2	226	c.15G>A	c.(13-15)ctG>ctA	p.L5L	NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	5							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGTCATAGCTGAAAGCAAAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	75			NA	NA	3		NA											NA				93783283		2203	4300	6503	SO:0001819	synonymous_variant			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694	63899	63899		NOP2/Sun domain containing	26208	protein-coding gene	gene with protein product			NOL1/NOP2/Sun domain family 3, NOL1/NOP2/Sun domain family, member 3		NA	12477932	Standard	NM_022072	NM_022072	NA	Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.15G>A	3.37:g.93783283G>A		NA	Q6PG41|Q8IXG9|Q9H6M2	37	CCDS2927.1																																																																																			NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352934.1		+	ENST00000314622.4	Silent	SNP	3 : 93783283 - 93783283 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	227	10
NTF3	4908	broad.mit.edu	37	12	5603958	5603958	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:5603958C>T	ENST00000423158.3	+	2	829	c.617C>T	c.(616-618)aCg>aTg	p.T206M	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.T193M	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	193					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TTTTATGAAACGCGATGTAAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(194;1104 2182 8339 9578 18493)							NA				0													55	55	55			NA	NA	12		NA											NA				5603958		2203	4300	6503	SO:0001583	missense				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652	4908	4908		Endogenous ligands	8023	protein-coding gene	gene with protein product		162660			NA	1889806	Standard		NM_002527	NA	Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000423158.3:c.617C>T	12.37:g.5603958C>T	ENSP00000397297:p.Thr206Met	NA	Q6FH50	37	CCDS44806.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155349	0.78114	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.73681	-0.77;-0.77	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	D	0.87665	0.6234	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89132	0.3510	10	0.87932	D	0	-33.1613	18.2818	0.90101	0.0:1.0:0.0:0.0	.	193;206	P20783;B7Z1T5	NTF3_HUMAN;.	M	206;193	ENSP00000397297:T206M;ENSP00000328738:T193M	ENSP00000328738:T193M	T	+	2	0	NTF3	5474219	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.583000	0.87209	0.650000	0.86243	ACG	NTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400484.2		+	ENST00000423158.3	Missense_Mutation	SNP	12 : 5603958 - 5603958 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	328	31
NTNG1	22854	broad.mit.edu	37	1	107961223	107961223	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:107961223T>A	ENST00000370067.1	+	6	1736	c.1109T>A	c.(1108-1110)aTa>aAa	p.I370K	NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370070.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370071.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370061.3_Missense_Mutation_p.I370K|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Missense_Mutation_p.I370K|NTNG1_ENST00000370068.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	378	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTAATAGGATATGGCCGAAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	94	99			NA	NA	1		NA											NA				107961223		1567	3582	5149	SO:0001583	missense			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631	22854	22854		Netrins	23319	protein-coding gene	gene with protein product	netrin G1f, Netrin-G1	608818			NA	10964959	Standard	NM_014917	NM_001113226	NA	Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370067.1:c.1109T>A	1.37:g.107961223T>A	ENSP00000359084:p.Ile370Lys	NA	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	37		.	.	.	.	.	.	.	.	.	.	T	12.89	2.074953	0.36566	.	.	ENSG00000162631	ENST00000370071;ENST00000370061;ENST00000370070;ENST00000370064;ENST00000370062;ENST00000370067;ENST00000370066	T;T;T;T;T	0.70516	-0.3;0.16;-0.49;-0.48;-0.3	5.92	4.78	0.61160	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.26420	N	0.976116	B;P	0.34757	0.0;0.467	B;B	0.31547	0.001;0.132	T	0.11891	-1.0569	9	0.29301	T	0.29	.	12.4919	0.55905	0.1254:0.0:0.0:0.8746	.	370;370	B4DKF0;Q9Y2I2-4	.;.	K	370;370;370;131;131;370;370	ENSP00000359088:I370K;ENSP00000359078:I370K;ENSP00000359087:I370K;ENSP00000359084:I370K;ENSP00000359083:I370K	ENSP00000359078:I370K	I	+	2	0	NTNG1	107762746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.298000	0.51818	1.046000	0.40249	0.455000	0.32223	ATA	NTNG1-004	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000030338.1		+	ENST00000370067.1	Missense_Mutation	SNP	1 : 107961223 - 107961223 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	31	10
OR10J1	26476	broad.mit.edu	37	1	159410194	159410194	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:159410194G>T	ENST00000423932.3	+	1	683	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	216					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGTGTGCTGGTGCTTGTTGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													290	264	273			NA	NA	1		NA											NA				159410194		2203	4300	6503	SO:0001583	missense			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184	26476	26476		GPCR / Class A : Olfactory receptors	8175	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_012351	NM_012351	NA	Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.646G>T	1.37:g.159410194G>T	ENSP00000399078:p.Val216Leu	NA	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855739	0.51376	.	.	ENSG00000196184	ENST00000423932	T	0.00036	8.86	4.42	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002096	T	0.00073	0.0002	N	0.25245	0.725	0.09310	N	1	D	0.55385	0.971	P	0.58577	0.841	T	0.04440	-1.0951	10	0.45353	T	0.12	.	6.6645	0.23032	0.0986:0.1797:0.7217:0.0	.	216	P30954	O10J1_HUMAN	L	216	ENSP00000399078:V216L	ENSP00000399078:V216L	V	+	1	0	OR10J1	157676818	0.000000	0.05858	0.028000	0.17463	0.974000	0.67602	-0.144000	0.10280	1.155000	0.42497	0.650000	0.86243	GTG	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059020.1		+	ENST00000423932.3	Missense_Mutation	SNP	1 : 159410194 - 159410194 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	616	173
OR1L4	254973	broad.mit.edu	37	9	125486388	125486388	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											200	182	188			NA	NA	9		NA											NA				125486388		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939	254973	254973		GPCR / Class A : Olfactory receptors	8216	protein-coding gene	gene with protein product				OR1L5	NA		Standard		NM_001005235	NA	Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.120G>A	9.37:g.125486388G>A		NA	Q6IFN0|Q96R81	37	CCDS35129.1																																																																																			OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053951.1		+	ENST00000259466.1	Silent	SNP	9 : 125486388 - 125486388 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	604	12
OSBPL11	114885	broad.mit.edu	37	3	125282595	125282595	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:125282595G>A	ENST00000296220.5	-	7	1250	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	321					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACTGCCACCGGCTTACTCTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	108			NA	NA	3		NA											NA				125282595		2203	4300	6503	SO:0001583	missense			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909	114885	114885		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16397	protein-coding gene	gene with protein product		606739			NA		Standard	NM_022776	NM_022776	NA	Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.961C>T	3.37:g.125282595G>A	ENSP00000296220:p.Pro321Ser	NA	A8K9I7	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	5.365	0.252644	0.10185	.	.	ENSG00000144909	ENST00000296220	T	0.17213	2.29	4.71	3.82	0.43975	.	0.578316	0.17514	N	0.171496	T	0.11750	0.0286	L	0.33485	1.01	0.39467	D	0.967668	B	0.10296	0.003	B	0.06405	0.002	T	0.06320	-1.0833	10	0.02654	T	1	-17.117	13.1274	0.59363	0.0:0.1607:0.8393:0.0	.	321	Q9BXB4	OSB11_HUMAN	S	321	ENSP00000296220:P321S	ENSP00000296220:P321S	P	-	1	0	OSBPL11	126765285	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	2.233000	0.43027	1.151000	0.42436	0.467000	0.42956	CCG	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356295.1		-	ENST00000296220.5	Missense_Mutation	SNP	3 : 125282595 - 125282595 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	403	5
P2RY1	5028	broad.mit.edu	37	3	152553971	152553971	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:152553971A>T	ENST00000305097.3	+	1	1236	c.400A>T	c.(400-402)Aac>Tac	p.N134Y		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	134					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTCATGTGAACCTCTATGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	75	77			NA	NA	3		NA											NA				152553971		2203	4300	6503	SO:0001583	missense			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860	5028	5028		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8539	protein-coding gene	gene with protein product		601167			NA	8579591	Standard	NM_002563	NM_002563	NA	Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.400A>T	3.37:g.152553971A>T	ENSP00000304767:p.Asn134Tyr	NA		37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675868	0.88445	.	.	ENSG00000169860	ENST00000305097	T	0.38560	1.13	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79165	-0.1916	10	0.87932	D	0	.	15.2728	0.73717	1.0:0.0:0.0:0.0	.	134	P47900	P2RY1_HUMAN	Y	134	ENSP00000304767:N134Y	ENSP00000304767:N134Y	N	+	1	0	P2RY1	154036661	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.210000	0.95106	2.186000	0.69663	0.533000	0.62120	AAC	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356943.1		+	ENST00000305097.3	Missense_Mutation	SNP	3 : 152553971 - 152553971 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	343	5
PAXBP1	94104	broad.mit.edu	37	21	34132166	34132166	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34132166T>C	ENST00000290178.4	-	6	1114	c.1115A>G	c.(1114-1116)aAt>aGt	p.N372S	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000331923.4_Missense_Mutation_p.N372S	NM_013329.3	NP_037461.2			PAX3 and PAX7 binding protein 1	NA											NA						AGGGACTGTATTATCTGTTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	185	186			NA	NA	21		NA											NA				34132166		2203	4300	6503	SO:0001583	missense			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086	94104	94104			13579	protein-coding gene	gene with protein product	functional spliceosome-associated protein 105, GC-rich sequence DNA-binding factor candidate		chromosome 21 open reading frame 66, GC-rich sequence DNA-binding factor 1	C21orf66, GCFC1	NA	11707072, 22862948	Standard	NM_013329	NM_016631	NA	Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000290178.4:c.1115A>G	21.37:g.34132166T>C	ENSP00000290178:p.Asn372Ser	NA		37	CCDS33541.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431418	0.43122	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.30981	1.94;1.51	5.8	5.8	0.92144	.	0.200313	0.53938	D	0.000047	T	0.34019	0.0883	L	0.29908	0.895	0.51012	D	0.999907	D;B	0.54601	0.967;0.336	P;B	0.55391	0.775;0.047	T	0.04255	-1.0965	10	0.08179	T	0.78	-33.6679	15.8075	0.78527	0.0:0.0:0.0:1.0	.	372;372	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	S	372	ENSP00000328992:N372S;ENSP00000290178:N372S	ENSP00000290178:N372S	N	-	2	0	GCFC1	33054037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.975000	0.56859	2.216000	0.71823	0.460000	0.39030	AAT	PAXBP1-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139567.4		-	ENST00000290178.4	Missense_Mutation	SNP	21 : 34132166 - 34132166 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	441	6
PCDH15	65217	broad.mit.edu	37	10	55570351	55570351	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:55570351C>A	ENST00000373965.2	-	35	4862	c.4468G>T	c.(4468-4470)Gtt>Ttt	p.V1490F	PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395440.1_Intron	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			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)				GCTTCACCAACCACCTCACCA	0.373		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	165	170			NA	NA	10		NA											NA				55570351		1568	3582	5150	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.4468G>T	10.37:g.55570351C>A	ENSP00000363076:p.Val1490Phe	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.760384|2.760384	0.49468|0.49468	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395445|ENST00000395438;ENST00000409834	T;T;T|T;T	0.63096|0.58358	0.03;0.14;-0.02|0.38;0.34	6.16|6.16	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.31796|0.31796	0.0808|0.0808	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B|B	0.34103|0.02656	0.437;0.437;0.437;0.437|0.0	B;B;B;B|B	0.26770|0.04013	0.073;0.073;0.073;0.073|0.001	T|T	0.06698|0.06698	-1.0812|-1.0812	9|9	0.62326|0.45353	D|T	0.03|0.12	.|.	10.6203|10.6203	0.45476|0.45476	0.0:0.7929:0.134:0.0731|0.0:0.7929:0.134:0.0731	.|.	1488;1490;1481;1487|1506	C6ZEF5;A2A3E2;C6ZEF7;C9J4F3|A2A3E3	.;.;.;.|.	F|C	1490;1487;1483;1490|1506;1117	ENSP00000363076:V1490F;ENSP00000410304:V1487F;ENSP00000378832:V1490F|ENSP00000378826:W1506C;ENSP00000386693:W1117C	ENSP00000363076:V1490F|ENSP00000378826:W1506C	V|W	-|-	1|3	0|0	PCDH15|PCDH15	55240357|55240357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.440000|1.440000	0.35024|0.35024	0.907000|0.907000	0.36646|0.36646	0.650000|0.650000	0.86243|0.86243	GTT|TGG	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55570351 - 55570351 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	737	153
PCDHA13	56136	broad.mit.edu	37	5	140263655	140263655	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140263655C>T	ENST00000409494.1	+	1	1863	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S601L|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031865.1	NP_114071.1			protocadherin alpha 13	NA										NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGATTCGGGCTACAAT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(147;1739 1852 5500 27947 37288)							NA				0													68	73	71			NA	NA	5		NA											NA				140263655		2202	4298	6500	SO:0001583	missense			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389	56136	56136		Cadherins / Protocadherins : Clustered	8667	other	complex locus constituent	KIAA0345-like 1, ortholog of mouse CNR5	606319		CNRS5	NA	10380929, 10662547	Standard	NM_018904	NM_018904	NA	Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000409494.1:c.1802C>T	5.37:g.140263655C>T	ENSP00000386821:p.Ser601Leu	NA		37		.	.	.	.	.	.	.	.	.	.	C	16.83	3.230086	0.58777	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.49432	0.78;0.78	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71643	0.3364	M	0.84773	2.715	0.38022	D	0.934879	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.966;0.991;0.99	T	0.80863	-0.1192	9	0.87932	D	0	.	16.3687	0.83346	0.0:1.0:0.0:0.0	.	601;601;601	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	601	ENSP00000386821:S601L;ENSP00000289272:S601L	ENSP00000289272:S601L	S	+	2	0	PCDHA13	140243839	0.000000	0.05858	0.966000	0.40874	0.123000	0.20343	0.579000	0.23788	2.144000	0.66660	0.655000	0.94253	TCG	PCDHA13-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251809.2		+	ENST00000409494.1	Missense_Mutation	SNP	5 : 140263655 - 140263655 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	655	6
PCDHB6	56130	broad.mit.edu	37	5	140531689	140531689	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140531689G>A	ENST00000231136.1	+	1	1851	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A	PCDHB6_ENST00000543635.1_Silent_p.A481A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	617	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	5		NA											NA				140531689		2038	4048	6086	SO:0001819	synonymous_variant			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211	56130	56130		Cadherins / Protocadherins : Clustered	8691	other	protocadherin		606332			NA	10380929	Standard	NM_018939	NM_018939	NA	Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1851G>A	5.37:g.140531689G>A		NA		37	CCDS4248.1																																																																																			PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251818.2		+	ENST00000231136.1	Silent	SNP	5 : 140531689 - 140531689 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	345	5
PCDHB8	56128	broad.mit.edu	37	5	140558339	140558339	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140558339G>A	ENST00000239444.2	+	1	969	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	242	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGCCCCTGAATTTGAGCA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	262	243			NA	NA	5		NA											NA				140558339		2203	4300	6503	SO:0001583	missense			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322	56128	56128		Cadherins / Protocadherins : Clustered	8693	other	protocadherin		606334			NA	10380929	Standard	NM_019120	NM_019120	NA	Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.724G>A	5.37:g.140558339G>A	ENSP00000239444:p.Glu242Lys	NA		37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	12.50	1.957802	0.34565	.	.	ENSG00000120322	ENST00000239444	T	0.61510	0.1	4.25	1.37	0.22104	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.36054	0.0953	N	0.16266	0.395	0.23126	N	0.998252	B	0.26876	0.162	B	0.27608	0.081	T	0.21211	-1.0252	9	0.25106	T	0.35	.	5.6828	0.17786	0.26:0.1488:0.5912:0.0	.	242	Q9UN66	PCDB8_HUMAN	K	242	ENSP00000239444:E242K	ENSP00000239444:E242K	E	+	1	0	PCDHB8	140538523	0.000000	0.05858	0.995000	0.50966	0.983000	0.72400	0.137000	0.15995	-0.038000	0.13624	0.585000	0.79938	GAA	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251816.2		+	ENST00000239444.2	Missense_Mutation	SNP	5 : 140558339 - 140558339 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1782	244
PEX12	5193	broad.mit.edu	37	17	33902992	33902993	+	Frame_Shift_Del	DEL	AG	AG	-	rs61752110		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33902992_33902993delAG	ENST00000225873.4	-	3	1495_1496	c.888_889delCT	c.(886-891)ctcttafs	p.LL296fs		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	296					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTTGGGTAAGAGGGGAGAAT	0.47		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CD982877	PEX12	D				20,4244		10,0,2122	NA	NA	NA	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.4	0.6		dbSNP_129	190	6,8246		2,2,4122	no	frameshift	PEX12	NM_000286.2		12,2,6244	A1A1,A1R,RR	NA	0.0727,0.469,0.2077			NA	26,12490	NA	NA	NA	SO:0001589	frameshift_variant			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733	5193	5193			8854	protein-coding gene	gene with protein product		601758			NA	9090384	Standard	NM_000286	NM_000286	NA	Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.888_889delCT	17.37:g.33902994_33902995delAG	ENSP00000225873:p.Leu296fs	NA	B2R6M2	37	CCDS11296.1																																																																																			PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256489.2		-	ENST00000225873.4	Frame_Shift_Del	DEL	17 : 33902992 - 33902993 - PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	368	50
PGLYRP3	114771	broad.mit.edu	37	1	153271680	153271680	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:153271680C>A	ENST00000290722.1	-	6	808	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	252					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTTCATACACGCCACCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	68	71			NA	NA	1		NA											NA				153271680		2203	4300	6503	SO:0001819	synonymous_variant			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527	114771	114771			30014	protein-coding gene	gene with protein product	peptidoglycan recognition protein I alpha precursor	608197			NA	11461926	Standard	NM_052891	NM_052891	NA	Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.756G>T	1.37:g.153271680C>A		NA	A1A4U8|Q5SY65	37	CCDS1035.1																																																																																			PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039488.1		-	ENST00000290722.1	Silent	SNP	1 : 153271680 - 153271680 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	136	43
PITPNM2	57605	broad.mit.edu	37	12	123470864	123470864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:123470864G>A	ENST00000280562.5	-	25	3947	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TACTTCAGCTGCGCCAGGTGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	10			NA	NA	12		NA											NA				123470864		2148	4240	6388	SO:0001587	stop_gained			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975	57605	57605			21044	protein-coding gene	gene with protein product		608920			NA	10022914	Standard	NM_020845	XM_005253582	NA	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000280562.5:c.3742C>T	12.37:g.123470864G>A	ENSP00000280562:p.Gln1248*	NA	Q9P271	37		.	.	.	.	.	.	.	.	.	.	G	41	8.645874	0.98899	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	.	.	.	4.8	4.8	0.61643	.	0.071076	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-33.4146	18.4084	0.90542	0.0:0.0:1.0:0.0	.	.	.	.	X	1248;1254;975;1254	.	ENSP00000280562:Q1248X	Q	-	1	0	PITPNM2	122036817	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.611000	0.82962	2.664000	0.90586	0.561000	0.74099	CAG	PITPNM2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401341.1		-	ENST00000280562.5	Nonsense_Mutation	SNP	12 : 123470864 - 123470864 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	73	4
PLEC	5339	broad.mit.edu	37	8	144993374	144993374	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:144993374G>A	ENST00000322810.4	-	32	11195	c.11026C>T	c.(11026-11028)Cgc>Tgc	p.R3676C	PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C|PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3676	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGAAGGCGCAAGCCCGTC	0.597		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9989	,	,	NA	4e-04	NA	NA	NA	0.001	0.4922	EXOME	NA	NA	5e-04	SNP								NA				0													73	87	83			NA	NA	8		NA											NA				144993374		2053	4201	6254	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11026C>T	8.37:g.144993374G>A	ENSP00000323856:p.Arg3676Cys	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.854	-0.237549	0.05944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.72	2.67	0.31697	.	0.448841	0.19000	U	0.125371	T	0.36248	0.0960	N	0.03115	-0.41	0.40996	D	0.984897	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.26883	-1.0090	10	0.59425	D	0.04	.	2.1195	0.03723	0.3623:0.0:0.392:0.2457	.	3566;3525;3517;3676;3507;3539;3543;3539	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	3539;3543;3539;3507;3676;3517;3525;3566;3562	ENSP00000344848:R3539C;ENSP00000350277:R3543C;ENSP00000346602:R3539C;ENSP00000381756:R3507C;ENSP00000323856:R3676C;ENSP00000347044:R3517C;ENSP00000348702:R3525C;ENSP00000388180:R3566C;ENSP00000434583:R3562C	ENSP00000323856:R3676C	R	-	1	0	PLEC	145065362	0.756000	0.28383	0.916000	0.36221	0.053000	0.15095	2.222000	0.42926	1.111000	0.41721	0.448000	0.29417	CGC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144993374 - 144993374 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1255	9
PPFIBP1	8496	broad.mit.edu	37	12	27832529	27832529	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:27832529G>C	ENST00000318304.8	+	19	2024	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	581					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCCATCTCCAGATTCCAAAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	132	130			NA	NA	12		NA											NA				27832529		2203	4300	6503	SO:0001583	missense			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10					8496	8496		Sterile alpha motif (SAM) domain containing	9249	protein-coding gene	gene with protein product		603141			NA	9624153, 11836260	Standard	NM_003622	NM_003622	NA	Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1741G>C	12.37:g.27832529G>C	ENSP00000314724:p.Asp581His	NA	O75336|Q86X70|Q9NY03|Q9ULJ0	37	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808956	0.90707	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.8	5.8	0.92144	.	0.000000	0.35096	U	0.003459	D	0.87030	0.6076	L	0.59436	1.845	0.80722	D	1	D;D;D;P;D	0.89917	0.999;1.0;0.999;0.886;0.996	D;D;D;P;D	0.91635	0.981;0.999;0.928;0.847;0.967	D	0.87005	0.2119	10	0.66056	D	0.02	-23.4066	19.6581	0.95851	0.0:0.0:1.0:0.0	.	428;412;581;575;550	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	H	412;428;581;550;575	ENSP00000444304:D412H;ENSP00000445425:D428H;ENSP00000314724:D581H;ENSP00000443442:D550H;ENSP00000228425:D575H	ENSP00000228425:D575H	D	+	1	0	PPFIBP1	27723796	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.039000	0.76544	2.735000	0.93741	0.655000	0.94253	GAT	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402877.1		+	ENST00000318304.8	Missense_Mutation	SNP	12 : 27832529 - 27832529 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	658	9
PRKCQ	5588	broad.mit.edu	37	10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:6470257G>A	ENST00000263125.5	-	18	2132	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	678	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGCTCTGTCGGCAAATGACAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(50;572 1126 10530 25349 30594)							NA				0													204	213	210			NA	NA	10		NA											NA				6470257		2203	4300	6503	SO:0001583	missense			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	5588	5588	2.7.11.1		9410	protein-coding gene	gene with protein product		600448			NA	8444877	Standard	NM_006257	NM_001282645	NA	Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2033C>T	10.37:g.6470257G>A	ENSP00000263125:p.Ala678Val	NA	Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	37	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.563|7.563	0.665173|0.665173	0.14710|0.14710	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.57107|.	0.42;0.42;0.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);|.	0.239518|.	0.42294|.	D|.	0.000736|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.02665|0.02665	-0.54|-0.54	0.20074|0.20074	N|N	0.999935|0.999935	B;B;P;B|.	0.40553|.	0.01;0.041;0.721;0.032|.	B;B;P;B|.	0.45310|.	0.006;0.009;0.476;0.028|.	T|T	0.16512|0.16512	-1.0400|-1.0400	10|5	0.14252|.	T|.	0.57|.	.|.	15.5307|15.5307	0.75960|0.75960	0.0:0.1384:0.8616:0.0|0.0:0.1384:0.8616:0.0	.|.	553;450;615;678|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|S	678;615;553|451	ENSP00000263125:A678V;ENSP00000380361:A615V;ENSP00000441752:A553V|.	ENSP00000263125:A678V|.	A|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6510263|6510263	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.066000|0.066000	0.16364|0.16364	5.083000|5.083000	0.64456|0.64456	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	GCC|CCG	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046665.1		-	ENST00000263125.5	Missense_Mutation	SNP	10 : 6470257 - 6470257 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1311	9
PRODH2	58510	broad.mit.edu	37	19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36303061G>A	ENST00000301175.3	-	4	730	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	238					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCAGCGCCGTCACCTTCAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	58	56			NA	NA	19		NA											NA				36303061		2203	4300	6503	SO:0001583	missense			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799	58510	58510			17325	protein-coding gene	gene with protein product					NA		Standard	NM_021232	NM_021232	NA	Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.713C>T	19.37:g.36303061G>A	ENSP00000301175:p.Thr238Met	NA		37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186150	0.78789	.	.	ENSG00000250799	ENST00000301175	T	0.41065	1.01	4.85	4.85	0.62838	.	.	.	.	.	T	0.62986	0.2473	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.66925	-0.5800	9	0.66056	D	0.02	.	15.5053	0.75735	0.0:0.0:1.0:0.0	.	238	Q9UF12	PROD2_HUMAN	M	238	ENSP00000301175:T238M	ENSP00000301175:T238M	T	-	2	0	PRODH2	40994901	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.408000	0.80041	2.531000	0.85337	0.655000	0.94253	ACG	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452552.2		-	ENST00000301175.3	Missense_Mutation	SNP	19 : 36303061 - 36303061 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	581	26
PTDSS2	81490	broad.mit.edu	37	11	473950	473950	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:473950G>A	ENST00000308020.5	+	3	516	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	114						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACAAGCTAAAGACGGGCCATT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													324	252	276			NA	NA	11		NA											NA				473950		2203	4300	6503	SO:0001583	missense			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915	81490	81490			15463	protein-coding gene	gene with protein product		612793			NA	14984733	Standard		NM_030783	NA	Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.340G>A	11.37:g.473950G>A	ENSP00000308258:p.Asp114Asn	NA		37	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281337	0.80692	.	.	ENSG00000174915	ENST00000308020	.	.	.	5.12	5.12	0.69794	.	0.059306	0.64402	D	0.000003	T	0.33147	0.0853	N	0.11341	0.13	0.58432	D	0.999999	P	0.38617	0.64	B	0.32465	0.146	T	0.20107	-1.0285	9	0.30078	T	0.28	-23.8077	17.6882	0.88262	0.0:0.0:1.0:0.0	.	114	Q9BVG9	PTSS2_HUMAN	N	114	.	ENSP00000308258:D114N	D	+	1	0	PTDSS2	463950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.943000	0.92975	2.545000	0.85829	0.462000	0.41574	GAC	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239301.2		+	ENST00000308020.5	Missense_Mutation	SNP	11 : 473950 - 473950 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	807	206
PTPRN2	5799	broad.mit.edu	37	7	157926573	157926573	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:157926573G>A	ENST00000389413.3	-	9	1455	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRN2_ENST00000389418.4_Missense_Mutation_p.T451M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	451						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTGGAATACGTCTGGCTCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	7		NA											NA				157926573		2203	4300	6503	SO:0001583	missense			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093	5799	5799		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9677	protein-coding gene	gene with protein product	IAR PTPRP	601698			NA	8954911, 9220540	Standard		NM_130842	NA	Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389413.3:c.1352C>T	7.37:g.157926573G>A	ENSP00000374064:p.Thr451Met	NA	Q8N4I5|Q92662|Q9Y4F8	37	CCDS5949.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938456	0.34189	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.08984	3.14;3.03;3.1;3.13;3.09	3.78	3.78	0.43462	.	0.331135	0.20745	U	0.086475	T	0.17534	0.0421	L	0.32530	0.975	0.31682	N	0.643063	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.71870	0.975;0.944;0.975;0.944;0.944	T	0.02797	-1.1109	10	0.66056	D	0.02	.	12.9114	0.58182	0.0:0.0:1.0:0.0	.	474;413;451;434;451	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	M	413;451;434;451;474	ENSP00000387114:T413M;ENSP00000374064:T451M;ENSP00000374067:T434M;ENSP00000374069:T451M;ENSP00000385464:T474M	ENSP00000374064:T451M	T	-	2	0	PTPRN2	157619334	1.000000	0.71417	0.126000	0.21872	0.004000	0.04260	3.318000	0.51975	1.810000	0.52873	0.585000	0.79938	ACG	PTPRN2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327121.1		-	ENST00000389413.3	Missense_Mutation	SNP	7 : 157926573 - 157926573 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	633	8
RAPGEF3	10411	broad.mit.edu	37	12	48134500	48134500	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:48134500G>A	ENST00000405493.2	-	21	2239	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A719V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	677					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAGCTCGGTGGCCACCCAGTA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	50	47			NA	NA	12		NA											NA				48134500		2203	4300	6503	SO:0001583	missense			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337	10411	10411			16629	protein-coding gene	gene with protein product	exchange protein directly activated by cAMP 1	606057	RAP guanine-nucleotide-exchange factor (GEF) 3		NA	10777494, 9856955	Standard	NM_006105	NM_001098531	NA	Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000405493.2:c.2030C>T	12.37:g.48134500G>A	ENSP00000384521:p.Ala677Val	NA		37	CCDS31784.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452324	0.43531	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	3.82	2.9	0.33743	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.148106	0.44688	D	0.000440	T	0.16342	0.0393	N	0.16368	0.405	0.35502	D	0.799909	B	0.33841	0.428	B	0.38106	0.265	T	0.14144	-1.0483	10	0.02654	T	1	.	9.7478	0.40457	0.1057:0.0:0.8943:0.0	.	719	O95398	RPGF3_HUMAN	V	677;719;366;677;677;677;719;682;628	ENSP00000384521:A677V;ENSP00000395708:A719V;ENSP00000448619:A677V;ENSP00000171000:A677V;ENSP00000373864:A719V;ENSP00000448480:A628V	ENSP00000171000:A677V	A	-	2	0	RAPGEF3	46420767	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.182000	0.32029	1.870000	0.54199	0.561000	0.74099	GCC	RAPGEF3-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405502.1		-	ENST00000405493.2	Missense_Mutation	SNP	12 : 48134500 - 48134500 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	351	5
RBP3	5949	broad.mit.edu	37	10	48387865	48387865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:48387865C>A	ENST00000224600.4	-	1	3126	c.3013G>T	c.(3013-3015)Gag>Tag	p.E1005*		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1005	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TTGGCATTCTCAGGGATATGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	107	105			NA	NA	10		NA											NA				48387865		2203	4300	6503	SO:0001587	stop_gained			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203	5949	5949			9921	protein-coding gene	gene with protein product		180290	retinol-binding protein 3, interstitial		NA		Standard	NM_002900	NM_002900	NA	Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3013G>T	10.37:g.48387865C>A	ENSP00000224600:p.Glu1005*	NA	Q5VSR0	37	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	41	8.782886	0.98952	.	.	ENSG00000107618	ENST00000224600	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.6072	18.5233	0.90962	0.0:1.0:0.0:0.0	.	.	.	.	X	1005	.	ENSP00000224600:E1005X	E	-	1	0	RBP3	48007871	1.000000	0.71417	0.941000	0.38009	0.901000	0.52897	4.906000	0.63293	2.640000	0.89533	0.655000	0.94253	GAG	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047888.1		-	ENST00000224600.4	Nonsense_Mutation	SNP	10 : 48387865 - 48387865 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	648	7
RCCD1	91433	broad.mit.edu	37	15	91500894	91500894	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:91500894G>A	ENST00000555155.1	+	4	809	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000394258.2_Silent_p.A206A|RCCD1_ENST00000556618.1_Silent_p.A206A			A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	206										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			TGTTGGAGGCGTTGCAGGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	15		NA											NA				91500894		2198	4298	6496	SO:0001819	synonymous_variant				CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965	91433	91433			30457	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_033544	XM_006720763	NA	Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000555155.1:c.618G>A	15.37:g.91500894G>A		NA	B2RTP9|Q29RX6	37																																																																																				RCCD1-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414749.1		+	ENST00000555155.1	Silent	SNP	15 : 91500894 - 91500894 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	472	6
RGS16	6004	broad.mit.edu	37	1	182569575	182569575	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:182569575G>A	ENST00000367558.5	-	5	609	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	154	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CCCCTGAGCCGCATCAAAGCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	120	131			NA	NA	1		NA											NA				182569575		2203	4300	6503	SO:0001583	missense			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333	6004	6004		Regulators of G-protein signaling	9997	protein-coding gene	gene with protein product		602514	regulator of G-protein signalling 16		NA	9469939	Standard	NM_002928	NM_002928	NA	Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.461C>T	1.37:g.182569575G>A	ENSP00000356529:p.Ala154Val	NA	B2R4M4|Q5VYN9|Q99701	37	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.927175	0.00493	.	.	ENSG00000143333	ENST00000367558	T	0.01998	4.51	5.38	-2.44	0.06502	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	1.166690	0.05992	N	0.646171	T	0.01320	0.0043	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47086	-0.9144	10	0.06891	T	0.86	.	5.0723	0.14613	0.4925:0.0:0.2363:0.2712	.	154	O15492	RGS16_HUMAN	V	154	ENSP00000356529:A154V	ENSP00000356529:A154V	A	-	2	0	RGS16	180836198	0.000000	0.05858	0.065000	0.19835	0.001000	0.01503	-0.510000	0.06328	-0.202000	0.10268	-1.223000	0.01593	GCG	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085188.1		-	ENST00000367558.5	Missense_Mutation	SNP	1 : 182569575 - 182569575 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	563	6
RNF145	153830	broad.mit.edu	37	5	158596042	158596042	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:158596042C>T	ENST00000518802.1	-	8	1199	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000520638.1_Silent_p.T334T|RNF145_ENST00000521606.2_Silent_p.T337T|RNF145_ENST00000424310.2_Silent_p.T320T|RNF145_ENST00000274542.2_Silent_p.T348T	NM_001199380.1	NP_001186309.1	Q96MT1	RN145_HUMAN	ring finger protein 145	320						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTAACAGCGTTACTCCTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	112	111			NA	NA	5		NA											NA				158596042		2203	4300	6503	SO:0001819	synonymous_variant			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860	153830	153830		RING-type (C3HC4) zinc fingers	20853	protein-coding gene	gene with protein product					NA		Standard	NM_144726	NM_001199380	NA	Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000518802.1:c.1050G>A	5.37:g.158596042C>T		NA	Q8IVP7	37	CCDS56393.1																																																																																			RNF145-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374049.1		-	ENST00000518802.1	Silent	SNP	5 : 158596042 - 158596042 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	512	5
RNF180	285671	broad.mit.edu	37	5	63509712	63509712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:63509712C>T	ENST00000389100.4	+	4	631	c.559C>T	c.(559-561)Cga>Tga	p.R187*	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	187						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCTGGAGGTGCGACCAACATA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	64	61			NA	NA	5		NA											NA				63509712		2203	4300	6503	SO:0001587	stop_gained			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197	285671	285671		RING-type (C3HC4) zinc fingers	27752	protein-coding gene	gene with protein product					NA		Standard	NM_178532	NM_178532	NA	Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.559C>T	5.37:g.63509712C>T	ENSP00000373752:p.Arg187*	NA	Q0JSU3|Q495A8|Q8NBD1	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987398	0.74589	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	.	.	.	6.08	3.21	0.36854	.	0.180087	0.38778	N	0.001574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0471	14.6552	0.68828	0.5204:0.4796:0.0:0.0	.	.	.	.	X	187	.	ENSP00000296615:R187X	R	+	1	2	RNF180	63545468	0.452000	0.25713	0.552000	0.28243	0.998000	0.95712	0.245000	0.18142	0.381000	0.24851	0.655000	0.94253	CGA	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368394.1		+	ENST00000389100.4	Nonsense_Mutation	SNP	5 : 63509712 - 63509712 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	164	82
RP1L1	94137	broad.mit.edu	37	8	10470667	10470667	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:10470667C>T	ENST00000382483.3	-	4	1164	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	314					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTCATGCGGACCTTCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	92	89			NA	NA	8		NA											NA				10470667		2131	4235	6366	SO:0001583	missense			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638	94137	94137			15946	protein-coding gene	gene with protein product		608581			NA	12634863	Standard		NM_178857	NA	Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.941G>A	8.37:g.10470667C>T	ENSP00000371923:p.Arg314His	NA		37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589738	0.28357	.	.	ENSG00000183638	ENST00000382483	T	0.03745	3.82	4.82	-5.91	0.02269	.	1.397370	0.05168	N	0.499120	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B	0.23058	0.079	B	0.12837	0.008	T	0.35822	-0.9773	10	0.21014	T	0.42	-0.1093	16.5366	0.84374	0.0:0.105:0.0:0.895	.	314	A6NKC6	.	H	314	ENSP00000371923:R314H	ENSP00000371923:R314H	R	-	2	0	RP1L1	10508077	0.003000	0.15002	0.013000	0.15412	0.915000	0.54546	0.048000	0.14078	-1.353000	0.02191	0.591000	0.81541	CGC	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375673.1		-	ENST00000382483.3	Missense_Mutation	SNP	8 : 10470667 - 10470667 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	572	6
RYR1	6261	broad.mit.edu	37	19	39075614	39075614	+	Missense_Mutation	SNP	G	G	A	rs118192151		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:39075614G>A	ENST00000355481.4	+	101	14794	c.14663G>A	c.(14662-14664)cGg>cAg	p.R4888Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R4893Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4893					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGGTGTCCGGGCTGGCGGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM030713|CM061940	RYR1	M	rs118192151						189	159	169			NA	NA	19		NA											NA				39075614		2203	4300	6503	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.14663G>A	19.37:g.39075614G>A	ENSP00000347667:p.Arg4888Gln	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959539	0.74016	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94457	-3.43;-3.43;-3.43	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	U	0.000015	D	0.98086	0.9369	M	0.94142	3.5	0.52501	D	0.999954	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	D	0.99081	1.0837	10	0.87932	D	0	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	4888;4893	P21817-2;P21817	.;RYR1_HUMAN	Q	4893;4888;4888	ENSP00000352608:R4893Q;ENSP00000347667:R4888Q;ENSP00000354254:R4888Q	ENSP00000347667:R4888Q	R	+	2	0	RYR1	43767454	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.656000	0.98514	2.658000	0.90341	0.449000	0.29647	CGG	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 39075614 - 39075614 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	380	47
SCN3A	6328	broad.mit.edu	37	2	165997338	165997338	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:165997338C>T	ENST00000283254.7	-	13	2309	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	SCN3A_ENST00000360093.3_Silent_p.P614P|SCN3A_ENST00000409101.3_Silent_p.P614P	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGTCTGTGCGGCACAAACA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4406		0,0,2203	230	167	188		1842,1842,1842	-12.1	0	2		188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	614/1952,614/1952,614/2001	165997338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253	6328	6328		Sodium channels, Voltage-gated ion channels / Sodium channels	10590	protein-coding gene	gene with protein product		182391	sodium channel, voltage-gated, type III, alpha polypeptide		NA	9589372, 16382098	Standard	NM_006922	NM_001081676	NA	Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000283254.7:c.1842G>A	2.37:g.165997338C>T		NA	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	37	CCDS33312.1																																																																																			SCN3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102655.2		-	ENST00000283254.7	Silent	SNP	2 : 165997338 - 165997338 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	244	6
SCN5A	6331	broad.mit.edu	37	3	38592068	38592068	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:38592068G>A	ENST00000455624.2	-	27	5720	c.5696C>T	c.(5695-5697)gCg>gTg	p.A1899V	SCN5A_ENST00000333535.4_Missense_Mutation_p.A1932V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1932V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1932					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCGCTGCCCGCCTGCTGACG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4127		0,1,2063	48	56	53		5792,5795,5741,5696,5633,5795	3.1	0.1	3		53	0,8370		0,0,4185	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	64,64,64,64,64,64	0,1,6248	AA,AG,GG	NA	0.0,0.0242,0.0080	benign,benign,benign,benign,benign,benign	1931/2016,1932/2017,1914/1999,1899/1984,1878/1963,1932/2017	38592068	1,12497	2064	4185	6249	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.5696C>T	3.37:g.38592068G>A	ENSP00000399524:p.Ala1899Val	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939513	0.02322	2.42E-4	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95949	-3.77;-3.8;-3.8;-3.81;-3.8;-3.77;-3.8;-3.86;-3.81;-3.81	4.86	3.08	0.35506	.	0.586375	0.16484	N	0.212412	D	0.90157	0.6924	N	0.20685	0.6	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.001;0.0;0.001;0.002;0.001	B;B;B;B;B;B	0.12156	0.001;0.001;0.002;0.002;0.007;0.004	T	0.82226	-0.0562	10	0.52906	T	0.07	.	10.9373	0.47253	0.1517:0.0:0.8483:0.0	.	1878;1899;1914;1932;1931;1932	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1914;1931;1932;1878;1931;1914;1932;1899;1878;1878	ENSP00000398962:A1914V;ENSP00000398266:A1931V;ENSP00000410257:A1932V;ENSP00000388797:A1878V;ENSP00000397915:A1931V;ENSP00000416634:A1914V;ENSP00000328968:A1932V;ENSP00000399524:A1899V;ENSP00000403355:A1878V;ENSP00000413996:A1878V	ENSP00000328968:A1932V	A	-	2	0	SCN5A	38567072	0.004000	0.15560	0.104000	0.21259	0.085000	0.17905	1.632000	0.37102	0.662000	0.31006	-0.218000	0.12543	GCG	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38592068 - 38592068 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	218	23
SDK1	221935	broad.mit.edu	37	7	4089014	4089014	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:4089014A>G	ENST00000389531.3	+	18	2637	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	SDK1_ENST00000404826.2_Silent_p.E879E			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	879	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGACGGAAGCCGTGAACT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	75	79			NA	NA	7		NA											NA				4089014		2203	4300	6503	SO:0001819	synonymous_variant			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.2637A>G	7.37:g.4089014A>G		NA	Q8TEN9|Q8TEP5|Q96N44	37																																																																																				SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Silent	SNP	7 : 4089014 - 4089014 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	276	66
SEMA6D	80031	broad.mit.edu	37	15	48060897	48060897	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:48060897G>A	ENST00000316364.5	+	18	2324	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000355997.3_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	629					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTTCAAGATGATCCAAACAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	124	126			NA	NA	15		NA											NA				48060897		2198	4297	6495	SO:0001583	missense			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872	80031	80031		Semaphorins	16770	protein-coding gene	gene with protein product		609295			NA	12110693, 14977921	Standard	NM_024966	NM_020858	NA	Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1885G>A	15.37:g.48060897G>A	ENSP00000324857:p.Asp629Asn	NA	A6NF10|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979420	0.53827	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.17854	2.25;2.25;2.27	5.49	5.49	0.81192	.	0.490778	0.22255	N	0.062495	T	0.11110	0.0271	N	0.08118	0	0.80722	D	1	B	0.23058	0.079	B	0.23018	0.043	T	0.26916	-1.0089	10	0.17832	T	0.49	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	629	Q8NFY4	SEM6D_HUMAN	N	629;629;610	ENSP00000446152:D629N;ENSP00000324857:D629N;ENSP00000374084:D610N	ENSP00000324857:D629N	D	+	1	0	SEMA6D	45848189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	2.733000	0.93635	0.655000	0.94253	GAT	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416868.1		+	ENST00000316364.5	Missense_Mutation	SNP	15 : 48060897 - 48060897 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	405	12
SENP5	205564	broad.mit.edu	37	3	196612958	196612958	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:196612958G>A	ENST00000323460.5	+	2	1155	c.906G>A	c.(904-906)cgG>cgA	p.R302R	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.R302R	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	302					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTTCTTGTCGGCATCAGCCGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(47;891 1095 11174 13858 51271)							NA				0													89	85	86			NA	NA	3		NA											NA				196612958		2203	4300	6503	SO:0001819	synonymous_variant			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231	205564	205564			28407	protein-coding gene	gene with protein product		612845	SUMO1/sentrin specific protease 5		NA	12477932	Standard	NM_152699	NM_152699	NA	Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.906G>A	3.37:g.196612958G>A		NA	Q96SA5	37	CCDS3322.1																																																																																			SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340524.1		+	ENST00000323460.5	Silent	SNP	3 : 196612958 - 196612958 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	466	5
SHANK2	22941	broad.mit.edu	37	11	70333392	70333392	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70333392G>A	ENST00000409161.1	-	9	1217	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	SHANK2_ENST00000449833.2_Silent_p.V407V|SHANK2_ENST00000338508.4_Silent_p.V1003V|SHANK2_ENST00000423696.2_Silent_p.V623V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	623					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGGCGGGGACGTAGACGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	124	122			NA	NA	11		NA											NA				70333392		2200	4294	6494	SO:0001819	synonymous_variant			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105	22941	22941		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14295	protein-coding gene	gene with protein product		603290	cortactin binding protein 1	CORTBP1	NA	10506216	Standard	NM_012309	XM_005277930	NA	Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000409161.1:c.1218C>T	11.37:g.70333392G>A		NA	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	37																																																																																				SHANK2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259184.1		-	ENST00000409161.1	Silent	SNP	11 : 70333392 - 70333392 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1078	11
SHH	6469	broad.mit.edu	37	7	155604784	155604784	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:155604784G>A	ENST00000297261.2	-	1	183	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	11					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGACGAGGACTAGCAGCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	80	77			NA	NA	7		NA											NA				155604784		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690	6469	6469			10848	protein-coding gene	gene with protein product		600725	sonic hedgehog (Drosophila) homolog, sonic hedgehog homolog (Drosophila)	HPE3, HLP3	NA	7590746	Standard	NM_000193	NM_000193	NA	Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.33C>T	7.37:g.155604784G>A		NA	A4D247|Q75MC9	37	CCDS5942.1																																																																																			SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322327.1		-	ENST00000297261.2	Silent	SNP	7 : 155604784 - 155604784 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	508	10
SIPA1L1	26037	broad.mit.edu	37	14	72055165	72055165	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055165C>G	ENST00000358550.2	+	2	1526	c.576C>G	c.(574-576)atC>atG	p.I192M	SIPA1L1_ENST00000555818.1_Missense_Mutation_p.I192M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I192M	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	192					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAATGTATCTCACCTACAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	123	129			NA	NA	14		NA											NA				72055165		2203	4300	6503	SO:0001583	missense			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.576C>G	14.37:g.72055165C>G	ENSP00000351352:p.Ile192Met	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	C	6.533	0.466533	0.12402	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.42900	0.96;0.96;0.96	5.72	4.83	0.62350	.	0.295385	0.42420	D	0.000709	T	0.21761	0.0524	N	0.08118	0	0.80722	D	1	B;B;B	0.22480	0.07;0.027;0.001	B;B;B	0.18561	0.014;0.022;0.002	T	0.06285	-1.0835	10	0.49607	T	0.09	-26.514	8.1671	0.31233	0.0:0.7296:0.1368:0.1336	.	192;192;192	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	M	192	ENSP00000370630:I192M;ENSP00000450832:I192M;ENSP00000351352:I192M	ENSP00000351352:I192M	I	+	3	3	SIPA1L1	71124918	0.958000	0.32768	1.000000	0.80357	0.817000	0.46193	0.113000	0.15499	2.689000	0.91719	0.655000	0.94253	ATC	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Missense_Mutation	SNP	14 : 72055165 - 72055165 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	488	6
SIPA1L1	26037	broad.mit.edu	37	14	72055191	72055191	+	Nonsense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055191C>G	ENST00000358550.2	+	2	1552	c.602C>G	c.(601-603)tCa>tGa	p.S201*	SIPA1L1_ENST00000555818.1_Nonsense_Mutation_p.S201*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S201*	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	201					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGACCATCACTGCACAGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	142	150			NA	NA	14		NA											NA				72055191		2203	4300	6503	SO:0001587	stop_gained			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.602C>G	14.37:g.72055191C>G	ENSP00000351352:p.Ser201*	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	C	41	8.716085	0.98927	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	5.72	5.72	0.89469	.	0.053658	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.2469	19.8891	0.96923	0.0:1.0:0.0:0.0	.	.	.	.	X	201	.	ENSP00000351352:S201X	S	+	2	0	SIPA1L1	71124944	1.000000	0.71417	0.209000	0.23619	0.175000	0.22909	5.968000	0.70413	2.689000	0.91719	0.655000	0.94253	TCA	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Nonsense_Mutation	SNP	14 : 72055191 - 72055191 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	556	7
SIPA1L1	26037	broad.mit.edu	37	14	72055518	72055518	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055518C>T	ENST00000358550.2	+	2	1879	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SIPA1L1_ENST00000555818.1_Missense_Mutation_p.S310L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	310					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTGGGAAGTCATCAGATCTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	69			NA	NA	14		NA											NA				72055518		2203	4300	6503	SO:0001583	missense			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.929C>T	14.37:g.72055518C>T	ENSP00000351352:p.Ser310Leu	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	C	11.17	1.558807	0.27827	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.428174	0.28161	N	0.016373	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	B;P;B	0.37500	0.074;0.597;0.001	B;B;B	0.43990	0.01;0.438;0.001	T	0.15752	-1.0426	10	0.36615	T	0.2	-11.6329	20.6593	0.99626	0.0:1.0:0.0:0.0	.	310;310;310	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	L	310	ENSP00000370630:S310L;ENSP00000450832:S310L;ENSP00000351352:S310L	ENSP00000351352:S310L	S	+	2	0	SIPA1L1	71125271	0.983000	0.35010	0.378000	0.26068	0.087000	0.18053	2.677000	0.46892	2.885000	0.99019	0.655000	0.94253	TCA	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Missense_Mutation	SNP	14 : 72055518 - 72055518 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	320	5
SIPA1L1	26037	broad.mit.edu	37	14	72055521	72055521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055521C>A	ENST00000358550.2	+	2	1882	c.932C>A	c.(931-933)tCa>tAa	p.S311*	SIPA1L1_ENST00000555818.1_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*	NM_001284246.1	NP_001271175.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	311					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGAAGTCATCAGATCTTGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	69			NA	NA	14		NA											NA				72055521		2203	4300	6503	SO:0001587	stop_gained			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555	26037	26037			20284	protein-coding gene	gene with protein product					NA	9858596	Standard	NM_015556	XM_005267514	NA	Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000358550.2:c.932C>A	14.37:g.72055521C>A	ENSP00000351352:p.Ser311*	NA	O95321|Q9UDU4|Q9UNU4	37		.	.	.	.	.	.	.	.	.	.	C	42	9.477020	0.99181	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	6.07	6.07	0.98685	.	0.378699	0.30869	N	0.008709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9733	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000351352:S311X	S	+	2	0	SIPA1L1	71125274	1.000000	0.71417	0.271000	0.24616	0.037000	0.13140	7.575000	0.82447	2.885000	0.99019	0.655000	0.94253	TCA	SIPA1L1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412807.1		+	ENST00000358550.2	Nonsense_Mutation	SNP	14 : 72055521 - 72055521 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	313	5
SIPA1L3	23094	broad.mit.edu	37	19	38682812	38682812	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:38682812C>T	ENST00000222345.6	+	17	4967	c.4458C>T	c.(4456-4458)gtC>gtT	p.V1486V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1486					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAAAATGTCTTTGGGCAAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	93	99			NA	NA	19		NA											NA				38682812		2203	4300	6503	SO:0001819	synonymous_variant			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738	23094	23094			23801	protein-coding gene	gene with protein product					NA		Standard	XM_032278	XM_005258671	NA	Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4458C>T	19.37:g.38682812C>T		NA	Q2TV87	37	CCDS33007.1																																																																																			SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156294.2		+	ENST00000222345.6	Silent	SNP	19 : 38682812 - 38682812 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	364	72
SLC25A36	55186	broad.mit.edu	37	3	140692616	140692616	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:140692616G>A	ENST00000446041.2	+	6	736	c.511G>A	c.(511-513)Gat>Aat	p.D171N	SLC25A36_ENST00000324194.6_Missense_Mutation_p.D171N|SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	171					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATCAGACAGATGGACTAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	3		NA											NA				140692616		2203	4300	6503	SO:0001583	missense			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120	55186	55186		Solute carriers	25554	protein-coding gene	gene with protein product			solute carrier family 25, member 36		NA		Standard	NM_018155	NM_001104647	NA	Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000446041.2:c.511G>A	3.37:g.140692616G>A	ENSP00000401938:p.Asp171Asn	NA	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	37	CCDS3114.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347924	0.82022	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78816	-1.21;-1.21;-1.21	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.042314	0.85682	D	0.000000	D	0.83718	0.5315	L	0.46157	1.445	0.80722	D	1	B;B;D	0.55800	0.417;0.215;0.973	B;B;P	0.60117	0.213;0.135;0.869	D	0.84345	0.0529	10	0.87932	D	0	-25.1645	18.015	0.89236	0.0:0.0:1.0:0.0	.	145;171;171	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	N	171;171;145	ENSP00000401938:D171N;ENSP00000320688:D171N;ENSP00000391521:D145N	ENSP00000320688:D171N	D	+	1	0	SLC25A36	142175306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAT	SLC25A36-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359927.1		+	ENST00000446041.2	Missense_Mutation	SNP	3 : 140692616 - 140692616 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	322	91
SLC25A46	91137	broad.mit.edu	37	5	110097039	110097039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:110097039G>T	ENST00000509432.1	+	4	722	c.175G>T	c.(175-177)Gga>Tga	p.G59*	SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000355943.3_Nonsense_Mutation_p.G272*|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*			Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	272					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGTGCTTCATGGAGTTCTTCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	138	140			NA	NA	5		NA											NA				110097039		2202	4300	6502	SO:0001587	stop_gained			BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209	91137	91137		Solute carriers	25198	protein-coding gene	gene with protein product		610826			NA	1651562, 1651563, 16949250	Standard	NM_138773	NM_138773	NA	Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000509432.1:c.175G>T	5.37:g.110097039G>T	ENSP00000426604:p.Gly59*	NA	A8K2F2|D3DSZ6|Q04197	37		.	.	.	.	.	.	.	.	.	.	G	41	8.647432	0.98899	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000504098;ENST00000509432	.	.	.	5.96	5.96	0.96718	.	0.046676	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.8844	20.4192	0.99033	0.0:0.0:1.0:0.0	.	.	.	.	X	110;181;272;126;126;59	.	ENSP00000348211:G272X	G	+	1	0	SLC25A46	110124938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.713000	0.91408	2.831000	0.97527	0.650000	0.86243	GGA	SLC25A46-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372505.1		+	ENST00000509432.1	Nonsense_Mutation	SNP	5 : 110097039 - 110097039 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	439	6
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(29;311 847 10864 17279 24903)							NA				0													72	71	71			NA	NA	5		NA											NA				168175367		2203	4300	6503	SO:0001583	missense			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347	6586	6586			11087	protein-coding gene	gene with protein product		603745	slit (Drosophila) homolog 3	SLIL2	NA	9693030, 9813312	Standard	NM_003062	NM_001271946	NA	Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2210G>A	5.37:g.168175367C>T	ENSP00000430333:p.Arg737Gln	NA	A6H8U9|O95804|Q9UFH5	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	c	36	5.620461	0.96660	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95918	-3.85;-3.85;-3.85	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.167150	0.53938	D	0.000050	D	0.96442	0.8839	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97301	0.9931	10	0.87932	D	0	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	737	O75094	SLIT3_HUMAN	Q	737	ENSP00000430333:R737Q;ENSP00000332164:R737Q;ENSP00000384890:R737Q	ENSP00000332164:R737Q	R	-	2	0	SLIT3	168107945	1.000000	0.71417	0.954000	0.39281	0.894000	0.52154	7.485000	0.81204	2.483000	0.83821	0.550000	0.68814	CGA	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252792.4		-	ENST00000519560.1	Missense_Mutation	SNP	5 : 168175367 - 168175367 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	470	7
SMAD9	4093	broad.mit.edu	37	13	37453546	37453546	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:37453546C>T	ENST00000350148.5	-	2	589	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SMAD9_ENST00000399275.2_Missense_Mutation_p.R94H|SMAD9_ENST00000379826.4_Missense_Mutation_p.R94H	NM_005905.5	NP_005896.1	O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCGCCACACGCGACAGTAAAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	13		NA											NA				37453546		2203	4300	6503	SO:0001583	missense				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693	4093	4093		SMADs	6774	protein-coding gene	gene with protein product		603295	MAD, mothers against decapentaplegic homolog 9 (Drosophila), SMAD, mothers against DPP homolog 9 (Drosophila)	MADH6, MADH9	NA	9205116	Standard	NM_005905	NM_001127217	NA	Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000350148.5:c.281G>A	13.37:g.37453546C>T	ENSP00000239885:p.Arg94His	NA	A2A2Y6|O14989|Q5TBA1	37	CCDS9360.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140955	0.77775	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.82255	-1.59;-1.59;-1.59	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.70716	0.801;0.97	D	0.93576	0.6908	10	0.87932	D	0	.	18.4517	0.90705	0.0:1.0:0.0:0.0	.	94;94	O15198-2;O15198	.;SMAD9_HUMAN	H	94	ENSP00000382216:R94H;ENSP00000239885:R94H;ENSP00000369154:R94H	ENSP00000239885:R94H	R	-	2	0	SMAD9	36351546	1.000000	0.71417	0.962000	0.40283	0.019000	0.09904	6.034000	0.70933	2.599000	0.87857	0.563000	0.77884	CGC	SMAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044526.2		-	ENST00000350148.5	Missense_Mutation	SNP	13 : 37453546 - 37453546 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	220	7
SMARCE1	6605	broad.mit.edu	37	17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507		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)											122	106	111			NA	NA	17		NA											NA				38787103		2203	4300	6503	SO:0001583	missense			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584	6605	6605			11109	protein-coding gene	gene with protein product		603111			NA	9435219	Standard	NM_003079	NM_003079	NA	Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.890G>A	17.37:g.38787103C>T	ENSP00000323967:p.Arg297His	NA	B3KMC1|O43539	37	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412636|3.412636	0.62511|0.62511	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	.|T;T;T	.|0.20598	.|2.07;2.06;2.3	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.048290	.|0.85682	.|D	.|0.000000	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.76071	.|0.987;0.98;0.98	T|T	0.28332|0.28332	-1.0047|-1.0047	5|10	.|0.72032	.|D	.|0.01	.|.	19.7017|19.7017	0.96057|0.96057	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|262;262;297	.|C0IMW5;C0IMW4;Q969G3	.|.;.;SMCE1_HUMAN	T|H	123|297;227;279;262;91	.|ENSP00000323967:R297H;ENSP00000445370:R279H;ENSP00000367039:R262H	.|ENSP00000323967:R297H	A|R	-|-	1|2	0|0	SMARCE1|SMARCE1	36040629|36040629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	6.978000|6.978000	0.76147|0.76147	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCA|CGC	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257203.1		-	ENST00000348513.6	Missense_Mutation	SNP	17 : 38787103 - 38787103 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	501	126
SMCHD1	23347	broad.mit.edu	37	18	2739500	2739500	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:2739500G>C	ENST00000320876.6	+	27	3834	c.3496G>C	c.(3496-3498)Gag>Cag	p.E1166Q	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1166					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATGGGCCAAGAGCTTCAAGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	77	80			NA	NA	18		NA											NA				2739500		1842	4084	5926	SO:0001583	missense			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596	23347	23347			29090	protein-coding gene	gene with protein product		614982			NA	9734811	Standard		NM_015295	NA	Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3496G>C	18.37:g.2739500G>C	ENSP00000326603:p.Glu1166Gln	NA	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527477	0.64860	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23552	1.9;1.91	5.61	5.61	0.85477	.	0.195294	0.46758	D	0.000274	T	0.32526	0.0832	L	0.51422	1.61	0.39011	D	0.959543	P	0.45044	0.849	P	0.45377	0.478	T	0.03157	-1.1066	10	0.32370	T	0.25	-17.716	18.627	0.91344	0.0:0.0:1.0:0.0	.	1166	A6NHR9	SMHD1_HUMAN	Q	1166	ENSP00000326603:E1166Q;ENSP00000261598:E1166Q	ENSP00000261598:E1166Q	E	+	1	0	SMCHD1	2729500	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.796000	0.75145	2.642000	0.89623	0.650000	0.86243	GAG	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441082.2		+	ENST00000320876.6	Missense_Mutation	SNP	18 : 2739500 - 2739500 C PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	165	7
SOX14	8403	broad.mit.edu	37	3	137483748	137483748	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:137483748G>A	ENST00000306087.1	+	1	170	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	41					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						ATCAGCAAACGCCTAGGTGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	100	101			NA	NA	3		NA											NA				137483748		2203	4300	6503	SO:0001583	missense			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875	8403	8403		SRY (sex determining region Y)-boxes	11193	protein-coding gene	gene with protein product	HMG box transcription factor SOX-14, SRY-box 14	604747			NA	9925951	Standard	NM_004189	NM_004189	NA	Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.122G>A	3.37:g.137483748G>A	ENSP00000305343:p.Arg41His	NA	B2RAC0|Q3KPH7	37	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711362	0.89112	.	.	ENSG00000168875	ENST00000306087	D	0.98060	-4.69	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	D	0.98343	0.9450	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.99338	1.0911	10	0.87932	D	0	.	18.2699	0.90064	0.0:0.0:1.0:0.0	.	41	O95416	SOX14_HUMAN	H	41	ENSP00000305343:R41H	ENSP00000305343:R41H	R	+	2	0	SOX14	138966438	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.597000	0.98273	2.653000	0.90120	0.511000	0.50034	CGC	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357182.1		+	ENST00000306087.1	Missense_Mutation	SNP	3 : 137483748 - 137483748 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	253	17
SPANXD	64648	broad.mit.edu	37	X	140785811	140785811	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:140785811C>T	ENST00000370515.3	-	2	438	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D	NA										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCAGGTTGCGGGTCTGAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		0,3830		0,0,0,1632,566	221	154	177		105	NA	0	X		177	1,6682		0,0,1,2428,1826	no	coding-synonymous	SPANXD	NM_032417.2		0,0,1,4060,2392	TT,TC,T,CC,C	NA	0.015,0.0,0.0095		35/98	140785811	1,10512	2198	4255	6453	SO:0001819	synonymous_variant			AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406	64648	64648			14332	protein-coding gene	gene with protein product	cancer/testis antigen family 11, member 4	300670, 300671	SPANX family, member E	SPANXE	NA		Standard		NM_032417	NA	Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.105G>A	X.37:g.140785811C>T		NA		37	CCDS14675.1																																																																																			SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058598.1		-	ENST00000370515.3	Silent	SNP	X : 140785811 - 140785811 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1162	7
SPATC1L	84221	broad.mit.edu	37	21	47581948	47581948	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47581948G>A	ENST00000291672.5	-	4	1639	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SPATC1L_ENST00000330205.6_Missense_Mutation_p.A39V	NM_001142854.1	NP_001136326.1			spermatogenesis and centriole associated 1-like	NA											NA						CACCACGCGCGCGTCCTTCTC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	18	20			NA	NA	21		NA											NA				47581948		2184	4284	6468	SO:0001583	missense			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284	84221	84221			1298	protein-coding gene	gene with protein product	speriolin-like protein	612412	chromosome 21 open reading frame 56	C21orf56	NA		Standard	NM_032261	NM_032261	NA	Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.578C>T	21.37:g.47581948G>A	ENSP00000291672:p.Ala193Val	NA		37	CCDS46653.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433928	0.43224	.	.	ENSG00000160284	ENST00000330205;ENST00000291672	T;T	0.44482	0.92;1.52	4.1	3.19	0.36642	.	0.295993	0.24231	N	0.040356	T	0.19046	0.0457	N	0.08118	0	0.09310	N	0.999998	P	0.35155	0.487	B	0.19391	0.025	T	0.08617	-1.0713	10	0.48119	T	0.1	-23.1208	10.7349	0.46120	0.0:0.76:0.24:0.0	.	193	Q9H0A9	CU056_HUMAN	V	39;193	ENSP00000333869:A39V;ENSP00000291672:A193V	ENSP00000291672:A193V	A	-	2	0	C21orf56	46406376	0.006000	0.16342	0.896000	0.35187	0.937000	0.57800	1.962000	0.40442	0.684000	0.31448	-0.211000	0.12701	GCG	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376654.1		-	ENST00000291672.5	Missense_Mutation	SNP	21 : 47581948 - 47581948 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	66	27
SPG20	23111	broad.mit.edu	37	13	36886315	36886315	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:36886315A>G	ENST00000451493.1	-	8	1917	c.1700T>C	c.(1699-1701)gTt>gCt	p.V567A	SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000494062.2_Missense_Mutation_p.V567A|SPG20_ENST00000355182.4_Missense_Mutation_p.V567A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	567					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTCTGCTGAAACATTGTTAAC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	103	100			NA	NA	13		NA											NA				36886315		2203	4300	6503	SO:0001583	missense			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104	23111	23111			18514	protein-coding gene	gene with protein product	spartin	607111			NA	6022528, 12134148	Standard		NM_001142294	NA	Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1700T>C	13.37:g.36886315A>G	ENSP00000414147:p.Val567Ala	NA	O60349|Q86Y67|Q9H1T2|Q9H1T3	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862134	0.91511	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89617	-2.54;-2.54;-2.54	5.86	5.86	0.93980	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92473	0.5987	10	0.37606	T	0.19	-22.1858	16.2644	0.82568	1.0:0.0:0.0:0.0	.	567;567	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	A	567	ENSP00000406061:V567A;ENSP00000347314:V567A;ENSP00000414147:V567A	ENSP00000347314:V567A	V	-	2	0	SPG20	35784315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.703000	0.74633	2.244000	0.73946	0.528000	0.53228	GTT	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044494.2		-	ENST00000451493.1	Missense_Mutation	SNP	13 : 36886315 - 36886315 G PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	386	88
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	153	150			NA	NA	1		NA											NA				54708959		2203	4300	6503	SO:0001583	missense				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216	23648	23648			15674	protein-coding gene	gene with protein product		607390	single-stranded DNA-binding protein 3		NA	12079286	Standard	NM_018070	NM_145716	NA	Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp	NA	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022721.1		-	ENST00000371320.3	Missense_Mutation	SNP	1 : 54708959 - 54708959 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	916	6
TASP1	55617	broad.mit.edu	37	20	13514683	13514683	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:13514683C>T	ENST00000337743.4	-	9	901	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	261					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CCAACTCTCCCCGGATGTTTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	20		NA											NA				13514683		2203	4300	6503	SO:0001583	missense			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	55617	55617	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	chromosome 20 open reading frame 13	C20orf13	NA	14636557	Standard	NM_017714	XR_430268	NA	Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.781G>A	20.37:g.13514683C>T	ENSP00000338624:p.Gly261Arg	NA	Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	37	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976123	0.92982	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.97529	-4.42;-4.42	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98931	1.0787	10	0.87932	D	0	-9.528	19.3476	0.94372	0.0:1.0:0.0:0.0	.	261;238	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	R	238;261;238	ENSP00000338624:G261R;ENSP00000400580:G238R	ENSP00000338624:G261R	G	-	1	0	TASP1	13462683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.031000	0.76491	2.666000	0.90696	0.563000	0.77884	GGG	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078041.2		-	ENST00000337743.4	Missense_Mutation	SNP	20 : 13514683 - 13514683 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	669	44
TBX5	6910	broad.mit.edu	37	12	114839668	114839668	+	Missense_Mutation	SNP	C	C	T	rs104894377		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:114839668C>T	ENST00000310346.4	-	3	871	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K|TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000349716.5_Missense_Mutation_p.E19K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	69					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E69K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGCCCACTTCGTGGAATTTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(152;1358 1980 4050 23898 40356)							NA				1	Substitution - Missense(1)	skin(1)	GRCh37	CM971436	TBX5	M	rs104894377						178	144	156			NA	NA	12		NA											NA				114839668		2203	4300	6503	SO:0001583	missense			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225	6910	6910		T-boxes	11604	protein-coding gene	gene with protein product		601620		HOS	NA	8988165, 8054982	Standard	NM_080717	NM_000192	NA	Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.205G>A	12.37:g.114839668C>T	ENSP00000309913:p.Glu69Lys	NA	O15301|Q9Y4I2	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642376	0.47153	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440;ENST00000526441	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.07	5.07	0.68467	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.105066	0.64402	D	0.000005	T	0.79678	0.4487	N	0.20401	0.57	0.80722	D	1	B;B	0.18310	0.027;0.013	B;B	0.17098	0.017;0.004	T	0.73681	-0.3906	10	0.22706	T	0.39	.	11.0049	0.47629	0.0:0.9151:0.0:0.0849	.	69;69	Q99593-2;Q99593	.;TBX5_HUMAN	K	19;69;69;69	ENSP00000337723:E19K;ENSP00000309913:E69K;ENSP00000384152:E69K;ENSP00000433292:E69K	ENSP00000309913:E69K	E	-	1	0	TBX5	113324051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.914000	0.69964	2.359000	0.80004	0.561000	0.74099	GAA	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388297.1		-	ENST00000310346.4	Missense_Mutation	SNP	12 : 114839668 - 114839668 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	392	96
TENM2	57451	broad.mit.edu	37	5	167627098	167627098	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:167627098C>T	ENST00000520394.1	+	14	2747	c.2696C>T	c.(2695-2697)gCg>gTg	p.A899V	TENM2_ENST00000545108.1_Missense_Mutation_p.A1131V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1010V|TENM2_ENST00000518659.1_Missense_Mutation_p.A1131V|TENM2_ENST00000403607.2_Missense_Mutation_p.A955V					teneurin transmembrane protein 2	NA											NA						AAGACAGATGCGTATGGCCAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	151	149			NA	NA	5		NA											NA				167627098		1987	4164	6151	SO:0001583	missense			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934	57451	57451			29943	protein-coding gene	gene with protein product		610119	odz, odd Oz/ten-m homolog 2 (Drosophila)	ODZ2	NA	10625539	Standard	NM_001122679	NM_001122679	NA	Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000520394.1:c.2696C>T	5.37:g.167627098C>T	ENSP00000427874:p.Ala899Val	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.37	1.917000	0.33815	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88354	-1.91;-1.89;-2.01;-2.35;-2.37	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	N	0.12663	0.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.82104	-0.0622	10	0.02654	T	1	.	18.7579	0.91839	0.0:1.0:0.0:0.0	.	1131;1131;899	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1131;1131;1010;899;955	ENSP00000429430:A1131V;ENSP00000438635:A1131V;ENSP00000428964:A1010V;ENSP00000427874:A899V;ENSP00000384905:A955V	ENSP00000384905:A955V	A	+	2	0	ODZ2	167559676	1.000000	0.71417	0.792000	0.32020	0.876000	0.50452	7.818000	0.86416	2.419000	0.82065	0.561000	0.74099	GCG	TENM2-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371066.2		+	ENST00000520394.1	Missense_Mutation	SNP	5 : 167627098 - 167627098 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	102	31
TJP1	7082	broad.mit.edu	37	15	30001114	30001114	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:30001114G>A	ENST00000400011.2	-	25	4512	c.4271C>T	c.(4270-4272)cCc>cTc	p.P1424L	TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000346128.6_Missense_Mutation_p.P1500L			Q07157	ZO1_HUMAN	tight junction protein 1	1500					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACTTTTCTGGGGATAGAAAGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(77;681 1843 6309 6570)							NA				0													165	157	159			NA	NA	15		NA											NA				30001114		1853	4100	5953	SO:0001583	missense				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067	7082	7082			11827	protein-coding gene	gene with protein product	zona occludens 1, tight junction protein ZO-1	601009			NA	8825647	Standard	NM_003257	XM_005254616	NA	Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000400011.2:c.4271C>T	15.37:g.30001114G>A	ENSP00000382890:p.Pro1424Leu	NA	B4E3K1|Q2NKP3|Q4ZGJ6	37		.	.	.	.	.	.	.	.	.	.	G	17.37	3.371619	0.61624	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.59083	0.29;0.29	5.61	5.61	0.85477	.	0.111909	0.64402	D	0.000008	T	0.63593	0.2524	L	0.50333	1.59	0.80722	D	1	B;B;B;P	0.45827	0.005;0.001;0.009;0.867	B;B;B;P	0.48030	0.009;0.002;0.016;0.564	T	0.65747	-0.6093	10	0.87932	D	0	.	19.8945	0.96949	0.0:0.0:1.0:0.0	.	1493;1420;1500;1424	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	1500;1424;1500;1420;1420	ENSP00000281537:P1500L;ENSP00000382890:P1424L	ENSP00000281537:P1500L	P	-	2	0	TJP1	27788406	1.000000	0.71417	0.902000	0.35471	0.988000	0.76386	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	CCC	TJP1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000268241.2		-	ENST00000400011.2	Missense_Mutation	SNP	15 : 30001114 - 30001114 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	857	8
TMEM26	219623	broad.mit.edu	37	10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:63170318G>A	ENST00000399298.3	-	6	1237	c.869C>T	c.(868-870)gCc>gTc	p.A290V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GTTCTTCGCGGCAAAGAACAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	108	107			NA	NA	10		NA											NA				63170318		2114	4229	6343	SO:0001583	missense			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932	219623	219623			28550	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178505	NM_178505	NA	Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.869C>T	10.37:g.63170318G>A	ENSP00000382237:p.Ala290Val	NA	Q6ZVM0|Q8IVN9	37	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834333	0.91036	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.109707	0.64402	D	0.000011	T	0.66177	0.2763	L	0.33189	0.99	0.80722	D	1	D	0.63046	0.992	P	0.59012	0.85	T	0.66732	-0.5849	9	0.66056	D	0.02	-2.1204	20.3967	0.98985	0.0:0.0:1.0:0.0	.	290	Q6ZUK4	TMM26_HUMAN	V	290	.	ENSP00000382237:A290V	A	-	2	0	TMEM26	62840324	1.000000	0.71417	0.967000	0.41034	0.382000	0.30200	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	GCC	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359121.1		-	ENST00000399298.3	Missense_Mutation	SNP	10 : 63170318 - 63170318 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	247	5
TMUB1	83590	broad.mit.edu	37	7	150779321	150779321	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:150779321G>T	ENST00000392818.3	-	2	687	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TMUB1_ENST00000297533.4_Silent_p.L110L|TMUB1_ENST00000476627.1_Silent_p.L110L|TMUB1_ENST00000482202.1_Silent_p.L110L|TMUB1_ENST00000462940.1_Silent_p.L110L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	110	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAATCATTGAGGAATTTCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	146	138			NA	NA	7		NA											NA				150779321		2203	4300	6503	SO:0001819	synonymous_variant			BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897	83590	83590			21709	protein-coding gene	gene with protein product		614792	chromosome 7 open reading frame 21	C7orf21	NA		Standard	NM_031434	NM_001136044	NA	Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.330C>A	7.37:g.150779321G>T		NA	D3DX06|Q53AQ2	37	CCDS5920.1																																																																																			TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351485.1		-	ENST00000392818.3	Silent	SNP	7 : 150779321 - 150779321 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	1372	10
TNC	3371	broad.mit.edu	37	9	117791711	117791711	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:117791711G>A	ENST00000341037.4	-	22	5679	c.5551C>T	c.(5551-5553)Cgc>Tgc	p.R1851C	TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000345230.3_Missense_Mutation_p.R1396C|TNC_ENST00000350763.4_Missense_Mutation_p.R2033C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C			P24821	TENA_HUMAN	tenascin C	2033	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGTTCTCGCGTCCGTTTTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	156	162			NA	NA	9		NA											NA				117791711		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.5551C>T	9.37:g.117791711G>A	ENSP00000339553:p.Arg1851Cys	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.182544|3.182544	0.57800|0.57800	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.21031|.	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03|.	5.48|5.48	4.53|4.53	0.55603|0.55603	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.340153|.	0.30401|.	N|.	0.009704|.	T|T	0.38054|0.38054	0.1026|0.1026	L|L	0.48362|0.48362	1.52|1.52	0.26177|0.26177	N|N	0.979773|0.979773	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.71414|.	0.973;0.93|.	T|T	0.32107|0.32107	-0.9919|-0.9919	10|5	0.72032|.	D|.	0.01|.	.|.	3.7527|3.7527	0.08573|0.08573	0.0839:0.1325:0.5337:0.2499|0.0839:0.1325:0.5337:0.2499	.|.	1760;2033|.	E9PC84;P24821|.	.;TENA_HUMAN|.	C|M	1669;1578;1487;1396;2033;1851;1760;1396;1670|595	ENSP00000344400:R1669C;ENSP00000438152:R1578C;ENSP00000344555:R1487C;ENSP00000345861:R1396C;ENSP00000265131:R2033C;ENSP00000339553:R1851C;ENSP00000411406:R1760C;ENSP00000443478:R1396C;ENSP00000442242:R1670C|.	ENSP00000344400:R1669C|.	R|T	-|-	1|2	0|0	TNC|TNC	116831532|116831532	0.934000|0.934000	0.31675|0.31675	0.986000|0.986000	0.45419|0.45419	0.442000|0.442000	0.32017|0.32017	4.235000|4.235000	0.58666|0.58666	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	CGC|ACG	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117791711 - 117791711 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	501	13
TNFAIP8L1	126282	broad.mit.edu	37	19	4652052	4652052	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:4652052G>A	ENST00000536716.1	+	2	317	c.171G>A	c.(169-171)caG>caA	p.Q57Q	TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	57										endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGCCCAGAAGATGCTCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	56			NA	NA	19		NA											NA				4652052		2203	4299	6502	SO:0001819	synonymous_variant			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361	126282	126282			28279	protein-coding gene	gene with protein product		615869			NA	12477932	Standard	NM_152362	NM_001167942	NA	Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.171G>A	19.37:g.4652052G>A		NA	D6W627	37	CCDS12132.1																																																																																			TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458662.1		+	ENST00000536716.1	Silent	SNP	19 : 4652052 - 4652052 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	116	29
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120	106	110			NA	NA	17		NA											NA				7577022		2203	4300	6503	SO:0001587	stop_gained	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.916C>T	17.37:g.7577022G>A	ENSP00000391127:p.Arg306*	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7577022 - 7577022 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	368	151
TTN	7273	broad.mit.edu	37	2	179412983	179412983	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179412983C>T	ENST00000589042.1	-	339	93594	c.93370G>A	c.(93370-93372)Gat>Aat	p.D31124N	TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D29483N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29483	Ig-like 139.		A -> G.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTAGTATCAACAACATCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	165	165			NA	NA	2		NA											NA				179412983		2042	4196	6238	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.93370G>A	2.37:g.179412983C>T	ENSP00000467141:p.Asp31124Asn	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869050	0.72065	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69860	0.3158	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.71144	-0.4678	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	22059;22184;22251;29483	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28556;22059;22251;22184;22056	ENSP00000343764:D28556N;ENSP00000434586:D22059N;ENSP00000340554:D22251N;ENSP00000352154:D22184N	ENSP00000340554:D22251N	D	-	1	0	TTN	179121229	1.000000	0.71417	0.980000	0.43619	0.745000	0.42441	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GAT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179412983 - 179412983 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	651	13
TTN	7273	broad.mit.edu	37	2	179597812	179597812	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179597812C>T	ENST00000589042.1	-	55	16315	c.16091G>A	c.(16090-16092)cGc>cAc	p.R5364H	TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R5047H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5047	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCACGTTGCGCAAGGGTTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,,,	1,3881		0,1,1940	60	57	58		12359,,,	5.3	1	2		58	0,8284		0,0,4142	yes	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,1,6082	TT,TC,CC	NA	0.0,0.0258,0.0082	probably-damaging,,,	4120/33424,,,	179597812	1,12165	1941	4142	6083	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.16091G>A	2.37:g.179597812C>T	ENSP00000467141:p.Arg5364His	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480091	0.26598	2.58E-4	0.0	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	6.17	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71576	0.3356	M	0.75884	2.315	0.80722	D	1	D	0.57571	0.98	P	0.48921	0.595	T	0.75557	-0.3276	9	0.87932	D	0	.	12.1123	0.53846	0.0:0.8742:0.0:0.1258	.	5047	Q8WZ42	TITIN_HUMAN	H	4120	ENSP00000343764:R4120H	ENSP00000343764:R4120H	R	-	2	0	TTN	179306057	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.216000	0.51176	2.941000	0.99782	0.655000	0.94253	CGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179597812 - 179597812 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	135	30
TTN	7273	broad.mit.edu	37	2	179641336	179641336	+	Missense_Mutation	SNP	C	C	T	rs150737838	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179641336C>T	ENST00000589042.1	-	28	5479	c.5255G>A	c.(5254-5256)cGt>cAt	p.R1752H	TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000591111.1_Missense_Mutation_p.R1752H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1505	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATCATACGGAGCCTGTT	0.478		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	LOWCOV	NA	NA	5e-04	SNP								NA				0													69	62	64			NA	NA	2		NA											NA				179641336		2203	4300	6503	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.5255G>A	2.37:g.179641336C>T	ENSP00000467141:p.Arg1752His	NA	E7ET18	37	CCDS59435.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.20	2.166946	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76877	0.4049	L	0.41079	1.255	0.38775	D	0.954622	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.80984	-0.1138	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1706;1706;1706;1752;1752	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1752;1706;1706;1706;1706;1752	ENSP00000343764:R1752H;ENSP00000434586:R1706H;ENSP00000340554:R1706H;ENSP00000352154:R1706H;ENSP00000354117:R1752H	ENSP00000340554:R1706H	R	-	2	0	TTN	179349581	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	4.864000	0.62990	2.363000	0.80096	0.561000	0.74099	CGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179641336 - 179641336 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	291	97
UBR4	23352	broad.mit.edu	37	1	19464627	19464627	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19464627G>A	ENST00000375254.3	-	60	8807	c.8780C>T	c.(8779-8781)cCg>cTg	p.P2927L	UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L|UBR4_ENST00000375267.2_Missense_Mutation_p.P2927L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2927					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCCAGCCGGATGCCCCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	1		NA											NA				19464627		2203	4300	6503	SO:0001583	missense			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8780C>T	1.37:g.19464627G>A	ENSP00000364403:p.Pro2927Leu	NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867697	0.51588	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.27256	1.74;1.74;1.68;1.7	5.83	4.89	0.63831	.	0.056992	0.64402	D	0.000001	T	0.25158	0.0611	L	0.57536	1.79	0.80722	D	1	P	0.36768	0.569	B	0.29663	0.105	T	0.05053	-1.0909	10	0.42905	T	0.14	.	15.9733	0.80036	0.0:0.0:0.8646:0.1354	.	2927	Q5T4S7	UBR4_HUMAN	L	2927;2927;2920;2903;535;1613	ENSP00000364403:P2927L;ENSP00000364416:P2927L;ENSP00000364365:P2920L;ENSP00000364374:P2903L	ENSP00000364365:P2920L	P	-	2	0	UBR4	19337214	1.000000	0.71417	0.967000	0.41034	0.793000	0.44817	7.308000	0.78929	2.770000	0.95276	0.655000	0.94253	CCG	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Missense_Mutation	SNP	1 : 19464627 - 19464627 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	152	4
VPS18	57617	broad.mit.edu	37	15	41192857	41192857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41192857G>A	ENST00000558474.1	+	3	627				VPS18_ENST00000220509.5_Nonsense_Mutation_p.W614*			Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	NA					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTAGATGCCTGGATTGAGATG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	77			NA	NA	15		NA											NA				41192857		2203	4300	6503	SO:0001627	intron_variant			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142	57617	57617			15972	protein-coding gene	gene with protein product		608551	vacuolar protein sorting protein 18		NA	11250079, 16203730	Standard		NM_020857	NA	Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000558474.1:c.325+1661G>A	15.37:g.41192857G>A		NA	Q8TCG0|Q96DI3|Q9H268	37		.	.	.	.	.	.	.	.	.	.	G	40	8.369804	0.98781	.	.	ENSG00000104142	ENST00000220509	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9768	20.1278	0.97990	0.0:0.0:1.0:0.0	.	.	.	.	X	614	.	ENSP00000220509:W614X	W	+	2	0	VPS18	38980149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	TGG	VPS18-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000418855.1		+	ENST00000558474.1	Intron	SNP	15 : 41192857 - 41192857 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	502	21
VPS25	84313	broad.mit.edu	37	17	40925889	40925889	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:40925889G>T	ENST00000253794.2	+	2	232	c.192G>T	c.(190-192)aaG>aaT	p.K64N		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	64					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACAACGTCAAGCTACAGCGTA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	62			NA	NA	17		NA											NA				40925889		2203	4300	6503	SO:0001583	missense			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475	84313	84313			28122	protein-coding gene	gene with protein product		610907	vacuolar protein sorting 25 (yeast)		NA	15511219	Standard	NM_032353	NM_032353	NA	Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.192G>T	17.37:g.40925889G>T	ENSP00000253794:p.Lys64Asn	NA	B2R581	37	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419314	0.42918	.	.	ENSG00000131475	ENST00000253794	T	0.45276	0.9	5.64	4.67	0.58626	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.048195	0.85682	D	0.000000	T	0.30572	0.0769	L	0.41124	1.26	0.58432	D	0.999997	B	0.27117	0.168	B	0.25759	0.063	T	0.10359	-1.0633	10	0.30854	T	0.27	-27.0428	7.0885	0.25272	0.1496:0.0:0.7087:0.1416	.	64	Q9BRG1	VPS25_HUMAN	N	64	ENSP00000253794:K64N	ENSP00000253794:K64N	K	+	3	2	VPS25	38179415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.207000	0.42788	1.383000	0.46405	0.655000	0.94253	AAG	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452383.1		+	ENST00000253794.2	Missense_Mutation	SNP	17 : 40925889 - 40925889 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	295	75
WISP1	8840	broad.mit.edu	37	8	134233083	134233083	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:134233083C>T	ENST00000517423.1	+	3	410				WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000250160.6_Splice_Site_p.F203F|WISP1_ENST00000519433.1_Intron	NM_001204869.1	NP_001191798.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	NA					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	p.F203F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGGAGCCTTCGGTGGGTGTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											23	21	22			NA	NA	8		NA											NA				134233083		2183	4282	6465	SO:0001627	intron_variant			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415	8840	8840			12769	protein-coding gene	gene with protein product		603398			NA	9843955	Standard	NM_003882	NM_003882	NA	Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000517423.1:c.350-6571C>T	8.37:g.134233083C>T		NA	A8KAG6|Q9HCS3	37	CCDS56555.1																																																																																			WISP1-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378797.1		+	ENST00000517423.1	Intron	SNP	8 : 134233083 - 134233083 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	238	72
ZC3H12A	80149	broad.mit.edu	37	1	37948876	37948876	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	488	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	72	68			NA	NA	1		NA											NA				37948876		2203	4300	6503	SO:0001819	synonymous_variant				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874	80149	80149		Zinc fingers, CCCH-type domain containing	26259	protein-coding gene	gene with protein product	MCP induced protein 1	610562			NA	18178554, 22055188	Standard	NM_025079	NM_025079	NA	Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1464C>T	1.37:g.37948876C>T		NA	D3DPT0|Q6I9Z1|Q9H5P1	37	CCDS417.1																																																																																			ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012154.2		+	ENST00000373087.6	Silent	SNP	1 : 37948876 - 37948876 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	575	6
ZHX1-C8ORF76	0	broad.mit.edu	37	8	124253563	124253563	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:124253563G>A	ENST00000357082.4	-	2	115				C8orf76_ENST00000276704.4_Silent_p.F8F|C8orf76_ENST00000521310.1_5'UTR	NM_001204180.1	NP_001191109.1				NA								p.F8L(1)			NA						ACTCGCCGCCGAACAACCAGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											11	11	11			NA	NA	8		NA											NA				124253563		2168	4258	6426	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000357082.4:c.22-2179C>T	8.37:g.124253563G>A		NA		37	CCDS56552.1																																																																																			ZHX1-C8ORF76-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381750.1		-	ENST00000357082.4	Intron	SNP	8 : 124253563 - 124253563 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	184	5
ZNF330	27309	broad.mit.edu	37	4	142150724	142150724	+	Splice_Site	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:142150724G>T	ENST00000262990.4	+	6	519		c.e6-1		ZNF330_ENST00000421169.2_Splice_Site	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	NA						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CTTGGTTACAGGGTGCAATAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													364	311	329			NA	NA	4		NA											NA				142150724		2203	4300	6503	SO:0001630	splice_region_variant			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445	27309	27309		Zinc fingers, C2H2-type	15462	protein-coding gene	gene with protein product		609550			NA	11528117, 10593942	Standard	NM_014487	NM_001292002	NA	Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.292-1G>T	4.37:g.142150724G>T		NA	B2RDA3	37	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778159	0.70107	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738;ENST00000421169	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF330	142370174	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	.	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257271.2	Intron	+	ENST00000262990.4	Splice_Site	SNP	4 : 142150724 - 142150724 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	749	7
ZNF471	57573	broad.mit.edu	37	19	57036821	57036821	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:57036821A>T	ENST00000591537.1	+	0	1090				ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000308031.5_Missense_Mutation_p.K462M			Q9BX82	ZN471_HUMAN	zinc finger protein 471	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TATGAATGCAAGGAATGTGGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)							NA				0													87	83	84			NA	NA	19		NA											NA				57036821		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263	57573	57573		Zinc fingers, C2H2-type, -	23226	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020813	NM_020813	NA	Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000591537.1:c.*220A>T	19.37:g.57036821A>T		NA	O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	37		.	.	.	.	.	.	.	.	.	.	A	12.94	2.089753	0.36855	.	.	ENSG00000196263	ENST00000308031	T	0.08193	3.12	3.66	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	M	0.68317	2.08	0.09310	N	0.999999	D	0.69078	0.997	P	0.62649	0.905	T	0.09015	-1.0694	9	0.56958	D	0.05	.	4.605	0.12372	0.6982:0.1949:0.1069:0.0	.	462	Q9BX82	ZN471_HUMAN	M	462	ENSP00000309161:K462M	ENSP00000309161:K462M	K	+	2	0	ZNF471	61728633	0.000000	0.05858	0.954000	0.39281	0.962000	0.63368	-1.500000	0.02283	0.496000	0.27904	0.379000	0.24179	AAG	ZNF471-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458406.1		+	ENST00000591537.1	3'UTR	SNP	19 : 57036821 - 57036821 T PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	544	37
ZNF70	7621	broad.mit.edu	37	22	24086056	24086056	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	424						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGACTTGCCGCACAGATTGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	111	112			NA	NA	22		NA											NA				24086056		2203	4300	6503	SO:0001819	synonymous_variant			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792	7621	7621		Zinc fingers, C2H2-type	13140	protein-coding gene	gene with protein product		194544	zinc finger protein 70 (Cos17)		NA	1639391	Standard	NM_021916	NM_021916	NA	Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1272C>T	22.37:g.24086056G>A		NA		37	CCDS13812.1																																																																																			ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319881.1		-	ENST00000341976.3	Silent	SNP	22 : 24086056 - 24086056 A PAAD-TCGA-OE-A75W-Tumor-SM-4WPAV	854	6
