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	89388927	89388927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:89388927G>A	ENST00000559004.1	+	7	1301	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ACAN_ENST00000561243.1_Missense_Mutation_p.E415K|ACAN_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000558207.1_Missense_Mutation_p.E415K|ACAN_ENST00000439576.2_Missense_Mutation_p.E415K			E7EX88	E7EX88_HUMAN	aggrecan	415					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)			CCTGGAACCCGAGGAGCCCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	69	65			NA	NA	15		NA											NA				89388927		2138	4260	6398	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.1243G>A	15.37:g.89388927G>A	ENSP00000453499:p.Glu415Lys	NA		37		.	.	.	.	.	.	.	.	.	.	G	12.68	2.010026	0.35415	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02236	4.62;4.38	5.52	3.57	0.40892	.	.	.	.	.	T	0.02494	0.0076	M	0.68952	2.095	0.09310	N	0.999998	P;P;P	0.43352	0.804;0.804;0.477	B;B;B	0.33392	0.124;0.163;0.032	T	0.38672	-0.9650	9	0.14252	T	0.57	-5.9214	6.9498	0.24538	0.0925:0.1781:0.7295:0.0	.	415;415;415	E7ENV9;E7EX88;Q6PID9	.;.;.	K	415	ENSP00000387356:E415K;ENSP00000341615:E415K	ENSP00000268134:E415K	E	+	1	0	ACAN	87189931	0.576000	0.26700	0.684000	0.30055	0.329000	0.28539	1.208000	0.32345	1.410000	0.46936	0.591000	0.81541	GAG	ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Missense_Mutation	SNP	15 : 89388927 - 89388927 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	257	26
ADAMTS12	81792	broad.mit.edu	37	5	33576636	33576636	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:33576636C>A	ENST00000504830.1	-	19	3830	c.3495G>T	c.(3493-3495)caG>caT	p.Q1165H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1080H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1165	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCTCAGGCTGTTCTCTTT	0.473		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	163	168			NA	NA	5		NA											NA				33576636		2203	4300	6503	SO:0001583	missense			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3495G>T	5.37:g.33576636C>A	ENSP00000422554:p.Gln1165His	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	5.753	0.323334	0.10900	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60171	0.22;0.21	5.28	-0.364	0.12553	.	1.070710	0.07089	N	0.838451	T	0.50497	0.1619	L	0.32530	0.975	0.09310	N	1	P;P	0.46220	0.874;0.8	P;B	0.48141	0.568;0.365	T	0.43540	-0.9385	10	0.15499	T	0.54	.	9.923	0.41474	0.0:0.5766:0.0:0.4234	.	1080;1165	P58397-3;P58397	.;ATS12_HUMAN	H	1165;1080	ENSP00000422554:Q1165H;ENSP00000344847:Q1080H	ENSP00000344847:Q1080H	Q	-	3	2	ADAMTS12	33612393	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.263000	0.18478	0.012000	0.14892	0.655000	0.94253	CAG	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33576636 - 33576636 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	593	96
ADRA1A	148	broad.mit.edu	37	8	26627895	26627895	+	Missense_Mutation	SNP	G	G	A	rs151273238	by1000genomes	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:26627895G>A	ENST00000519229.1	-	2	1178	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380573.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.T391M			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	391					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AACGCCATCCGTCTTGGAGAT	0.562		NA											G	2	9e-04	0.002	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G	MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	122	118	120		1172,1172,1172,1172	5.1	1	8	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ADRA1A	NM_000680.2,NM_033302.2,NM_033303.3,NM_033304.2	81,81,81,81	0,4,6499	AA,AG,GG	NA	0.0233,0.0454,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	391/467,391/430,391/476,391/456	26627895	4,13002	2203	4300	6503	SO:0001583	missense			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907	148	148		GPCR / Class A : Adrenoceptors : alpha	277	protein-coding gene	gene with protein product		104221	adrenergic, alpha-1A-, receptor	ADRA1C	NA		Standard	NM_033303	NM_033303	NA	Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1172C>T	8.37:g.26627895G>A	ENSP00000430793:p.Thr391Met	NA	A8K0I3|B0ZBD1|B0ZBD2|B0ZBD4|B0ZBD5|B0ZBD6|B0ZBD8|B0ZBD9|O60451|Q13675|Q13729|Q4VBM7|Q6RUJ4|Q6RUJ5|Q6RUJ7|Q6RUJ8|Q6RUJ9|Q96RE8|Q9UD63|Q9UD67	37		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	14.75	2.627392	0.46944	4.54E-4	2.33E-4	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62941	2.02;0.07;0.05;-0.01;0.06;0.06	5.96	5.06	0.68205	.	0.667620	0.14213	N	0.333955	T	0.64159	0.2573	L	0.51422	1.61	0.80722	D	1	P;P;P;D	0.54772	0.521;0.954;0.851;0.968	B;P;B;B	0.46049	0.128;0.502;0.332;0.374	T	0.67122	-0.5750	10	0.72032	D	0.01	.	16.2148	0.82198	0.0:0.0:0.8577:0.1423	.	391;391;391;391	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	M	391	ENSP00000369960:T391M;ENSP00000369956:T391M;ENSP00000430793:T391M;ENSP00000346557:T391M;ENSP00000276393:T391M;ENSP00000369947:T391M	ENSP00000276393:T391M	T	-	2	0	ADRA1A	26683812	1.000000	0.71417	0.954000	0.39281	0.837000	0.47467	4.852000	0.62904	1.445000	0.47624	0.655000	0.94253	ACG	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376207.1		-	ENST00000519229.1	Missense_Mutation	SNP	8 : 26627895 - 26627895 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	711	81
AHNAK	79026	broad.mit.edu	37	11	62297984	62297984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:62297984G>A	ENST00000378024.4	-	5	4179	c.3905C>T	c.(3904-3906)cCg>cTg	p.P1302L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1302					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCCTTCCGGGCCCTCAAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	145	141			NA	NA	11		NA											NA				62297984		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3905C>T	11.37:g.62297984G>A	ENSP00000367263:p.Pro1302Leu	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	13.14	2.148809	0.37923	.	.	ENSG00000124942	ENST00000378024	T	0.03242	4.0	4.66	4.66	0.58398	.	0.000000	0.31612	U	0.007360	T	0.09379	0.0231	M	0.87827	2.91	0.58432	D	0.999999	P	0.50272	0.933	B	0.39152	0.292	T	0.22173	-1.0224	10	0.45353	T	0.12	.	17.5636	0.87913	0.0:0.0:1.0:0.0	.	1302	Q09666	AHNK_HUMAN	L	1302	ENSP00000367263:P1302L	ENSP00000367263:P1302L	P	-	2	0	AHNAK	62054560	0.997000	0.39634	0.103000	0.21229	0.003000	0.03518	2.440000	0.44855	2.309000	0.77851	0.645000	0.84053	CCG	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62297984 - 62297984 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	932	213
AHNAK2	113146	broad.mit.edu	37	14	105416307	105416307	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:105416307C>T	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Silent_p.K1827K			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAACTTGGGCATTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	239	226			NA	NA	14		NA											NA				105416307		1917	4079	5996	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.219+3910G>A	14.37:g.105416307C>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37																																																																																				AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105416307 - 105416307 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	2407	10
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	440	6
ANKRD30A	91074	broad.mit.edu	37	10	37508147	37508147	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:37508147A>T	ENST00000374660.1	+	40	3795	c.3696A>T	c.(3694-3696)aaA>aaT	p.K1232N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1113N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K1113N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGCTTAAAGTTCTGATAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	121	121			NA	NA	10		NA											NA				37508147		1835	4081	5916	SO:0001583	missense			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.3696A>T	10.37:g.37508147A>T	ENSP00000363792:p.Lys1232Asn	NA	Q5W025	37		.	.	.	.	.	.	.	.	.	.	a	0	-2.770045	0.00081	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.11385	2.78;2.78	2.81	-1.34	0.09143	.	.	.	.	.	T	0.03011	0.0089	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41288	-0.9517	9	0.02654	T	1	.	0.8546	0.01179	0.1973:0.1254:0.1857:0.4916	.	1169	Q9BXX3	AN30A_HUMAN	N	1113;1232	ENSP00000354432:K1113N;ENSP00000363792:K1232N	ENSP00000354432:K1113N	K	+	3	2	ANKRD30A	37548153	0.893000	0.30496	0.000000	0.03702	0.001000	0.01503	1.090000	0.30902	-0.603000	0.05767	-0.457000	0.05445	AAA	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Missense_Mutation	SNP	10 : 37508147 - 37508147 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	851	145
ANKRD30B	374860	broad.mit.edu	37	18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	145	152			NA	NA	18		NA											NA				14787073		692	1585	2277	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.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr	NA	Q4G175	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443557.1		+	ENST00000358984.4	Missense_Mutation	SNP	18 : 14787073 - 14787073 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	156	5
C2CD2L	9854	broad.mit.edu	37	11	118984835	118984835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:118984835G>A	ENST00000528586.1	+	9	983	c.913G>A	c.(913-915)Gca>Aca	p.A305T	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A558T			O14523	C2C2L_HUMAN	C2CD2-like	557						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGGCTATGCGGCATCCCTGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	11		NA											NA				118984835		2200	4295	6495	SO:0001583	missense			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375	9854	9854			29000	protein-coding gene	gene with protein product			transmembrane protein 24	TMEM24	NA	15289880	Standard	NM_014807	XM_005271738	NA	Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.913G>A	11.37:g.118984835G>A	ENSP00000433600:p.Ala305Thr	NA	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	37		.	.	.	.	.	.	.	.	.	.	G	33	5.232485	0.95207	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.44083	0.93;0.93	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.49350	1.555	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61554	-0.7039	10	0.72032	D	0.01	2.3648	18.0563	0.89365	0.0:0.0:1.0:0.0	.	557;558	O14523;O14523-2	C2C2L_HUMAN;.	T	558;305	ENSP00000338885:A558T;ENSP00000433600:A305T	ENSP00000338885:A558T	A	+	1	0	C2CD2L	118490045	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.735000	0.91549	2.798000	0.96311	0.655000	0.94253	GCA	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388199.2		+	ENST00000528586.1	Missense_Mutation	SNP	11 : 118984835 - 118984835 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	920	6
C4orf46	201725	broad.mit.edu	37	4	159592816	159592816	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:159592816G>A	ENST00000379205.4	-	1	382	c.138C>T	c.(136-138)agC>agT	p.S46S	C4orf46_ENST00000508457.1_Silent_p.S46S|C4orf46_ENST00000508836.1_Intron	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	46										kidney(1)|lung(3)|skin(1)	5						CCGTTGGGCCGCTGCTCCTGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	28	30			NA	NA	4		NA											NA				159592816		2203	4300	6503	SO:0001819	synonymous_variant				CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208	201725	201725			27320	protein-coding gene	gene with protein product	renal cancer differentiation gene 1				NA		Standard	NM_001008393	NM_001008393	NA	Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.138C>T	4.37:g.159592816G>A		NA	B3KNH7	37	CCDS34088.1																																																																																			C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366378.1		-	ENST00000379205.4	Silent	SNP	4 : 159592816 - 159592816 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	137	4
CACNA1C	775	broad.mit.edu	37	12	2797686	2797686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2797686C>T	ENST00000399655.1	+	46	6123	c.5858C>T	c.(5857-5859)gCc>gTc	p.A1953V	CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1973V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1959V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1970V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2001V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1981V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1978V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1994V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2024V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1953V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2036					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCCTTTTGCCACCCCACCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	53	51			NA	NA	12		NA											NA				2797686		1943	4134	6077	SO:0001583	missense			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.5858C>T	12.37:g.2797686C>T	ENSP00000382563:p.Ala1953Val	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273195	0.40194	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.86	3.97	0.46021	.	1.113020	0.06702	N	0.771686	T	0.53658	0.1810	M	0.62723	1.935	0.26184	N	0.979682	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21520	0.011;0.057;0.01;0.017;0.057;0.026;0.012;0.015;0.007;0.026;0.026;0.01;0.01;0.015;0.006;0.009;0.01;0.008;0.026;0.008;0.012;0.015;0.026;0.01;0.01	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26310	0.037;0.068;0.011;0.027;0.068;0.068;0.024;0.068;0.038;0.024;0.036;0.017;0.033;0.068;0.005;0.031;0.033;0.019;0.036;0.032;0.016;0.036;0.036;0.017;0.011	T	0.47129	-0.9141	10	0.44086	T	0.13	.	9.6655	0.39981	0.0:0.7805:0.1415:0.078	.	644;1994;1950;2036;1988;1972;1953;1970;1981;1953;1973;1953;1984;2001;1953;1988;2024;1961;1959;1961;1942;1972;1972;1953;1953	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	1978;1953;1953;1981;1953;1972;1972;1961;1953;2001;1973;1953;1994;1970;1988;1959;1972;1953;2024;1988;2024;1961;1854	ENSP00000336982:A1978V;ENSP00000382563:A1953V;ENSP00000382552:A1953V;ENSP00000382547:A1981V;ENSP00000382506:A1953V;ENSP00000382530:A1972V;ENSP00000382546:A1972V;ENSP00000382500:A1961V;ENSP00000382549:A1953V;ENSP00000266376:A2001V;ENSP00000382515:A1973V;ENSP00000382510:A1953V;ENSP00000341092:A1994V;ENSP00000382537:A1970V;ENSP00000329877:A1988V;ENSP00000382557:A1959V;ENSP00000385724:A1972V;ENSP00000382512:A1953V;ENSP00000382542:A2024V;ENSP00000382526:A1988V;ENSP00000385896:A2024V;ENSP00000382504:A1961V	ENSP00000323129:A1854V	A	+	2	0	CACNA1C	2667947	1.000000	0.71417	0.629000	0.29254	0.517000	0.34286	4.439000	0.59968	1.051000	0.40369	0.462000	0.41574	GCC	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Missense_Mutation	SNP	12 : 2797686 - 2797686 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	662	7
CACNA1D	776	broad.mit.edu	37	3	53757658	53757658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:53757658C>T	ENST00000422281.2	+	13	1864	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R622C|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R642C	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	622					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCGGTGTGTGCGCCTCTTAAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	231	229			NA	NA	3		NA											NA				53757658		2203	4300	6503	SO:0001583	missense			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.1864C>T	3.37:g.53757658C>T	ENSP00000409174:p.Arg622Cys	NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786113	0.90282	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;1.0;0.99	D	0.97727	1.0200	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	622;315;622;642	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	C	622;642;622;315	ENSP00000288133:R622C;ENSP00000288139:R642C;ENSP00000409174:R622C;ENSP00000418014:R315C	ENSP00000288139:R642C	R	+	1	0	CACNA1D	53732698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1		+	ENST00000422281.2	Missense_Mutation	SNP	3 : 53757658 - 53757658 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	963	6
CCDC108	255101	broad.mit.edu	37	2	219870881	219870881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219870881G>T	ENST00000341552.5	-	31	4867	c.4784C>A	c.(4783-4785)cCa>cAa	p.P1595Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1595Q|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1595Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1595						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTCCTTTGGGGTCTGCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	64	61			NA	NA	2		NA											NA				219870881		2203	4300	6503	SO:0001583	missense			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378	255101	255101			25325	protein-coding gene	gene with protein product		614270			NA	12477932	Standard	NM_194302	NM_194302	NA	Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4784C>A	2.37:g.219870881G>T	ENSP00000340776:p.Pro1595Gln	NA	A2BDD8|Q6ZSR8|Q8NDJ3	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431430	0.12045	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04917	3.53;3.53;3.53	5.56	3.73	0.42828	.	1.183400	0.06364	N	0.712220	T	0.08223	0.0205	L	0.48642	1.525	0.09310	N	1	B	0.19935	0.04	B	0.17979	0.02	T	0.42310	-0.9459	10	0.30854	T	0.27	0.573	8.21	0.31478	0.0809:0.3029:0.6162:0.0	.	1595	Q6ZU64	CC108_HUMAN	Q	1595	ENSP00000340776:P1595Q;ENSP00000413377:P1595Q;ENSP00000409117:P1595Q	ENSP00000340776:P1595Q	P	-	2	0	CCDC108	219579125	0.055000	0.20627	0.001000	0.08648	0.215000	0.24574	2.473000	0.45145	0.681000	0.31386	0.655000	0.94253	CCA	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256598.4		-	ENST00000341552.5	Missense_Mutation	SNP	2 : 219870881 - 219870881 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	659	62
CDH15	1013	broad.mit.edu	37	16	89251637	89251637	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:89251637G>C	ENST00000289746.2	+	5	624	c.559G>C	c.(559-561)Gca>Cca	p.A187P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	187	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACGGACAACGCAGCGCTGCG	0.662		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	16		NA											NA				89251637		2193	4293	6486	SO:0001583	missense			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910	1013	1013		Cadherins / Major cadherins	1754	protein-coding gene	gene with protein product		114019	cadherin 15, M-cadherin (myotubule)	CDH3, CDH14	NA	1427864	Standard	NM_004933	NM_004933	NA	Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.559G>C	16.37:g.89251637G>C	ENSP00000289746:p.Ala187Pro	NA		37	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090995	0.76756	.	.	ENSG00000129910	ENST00000289746	T	0.54675	0.56	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000065	T	0.80722	0.4677	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86687	0.1920	10	0.59425	D	0.04	.	16.5411	0.84385	0.0:0.0:1.0:0.0	.	187	P55291	CAD15_HUMAN	P	187	ENSP00000289746:A187P	ENSP00000289746:A187P	A	+	1	0	CDH15	87779138	1.000000	0.71417	0.840000	0.33206	0.279000	0.26890	9.248000	0.95456	2.187000	0.69744	0.462000	0.41574	GCA	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269920.1		+	ENST00000289746.2	Missense_Mutation	SNP	16 : 89251637 - 89251637 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	100	18
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:21971120G>A	ENST00000479692.2	-	2	99	c.85C>T	c.(85-87)Cga>Tga	p.R29*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000304494.5_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80					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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	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				1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	GRCh37	CM014695	CDKN2A	M	rs121913388						11	14	13			NA	NA	9		NA											NA				21971120		2172	4246	6418	SO:0001587	stop_gained			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.85C>T	9.37:g.21971120G>A	ENSP00000466887:p.Arg29*	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Nonsense_Mutation	SNP	9 : 21971120 - 21971120 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	173	57
CHRNB2	1141	broad.mit.edu	37	1	154543680	154543680	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:154543680C>T	ENST00000368476.3	+	5	645	c.381C>T	c.(379-381)taC>taT	p.Y127Y		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	127					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACGGCATGTACGAGGTGTCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	130	134			NA	NA	1		NA											NA				154543680		2203	4300	6503	SO:0001819	synonymous_variant			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716	1141	1141		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1962	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, beta 2 (neuronal)	118507	cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)		NA	1505988	Standard	NM_000748	NM_000748	NA	Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.381C>T	1.37:g.154543680C>T		NA	Q9UEH9	37	CCDS1070.1																																																																																			CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090697.1		+	ENST00000368476.3	Silent	SNP	1 : 154543680 - 154543680 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	884	311
CLIP1	6249	broad.mit.edu	37	12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:122825973G>A	ENST00000302528.7	-	9	1852	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000358808.2_Missense_Mutation_p.T582I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	143	142			NA	NA	12		NA											NA				122825973		2203	4300	6503	SO:0001583	missense				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779	6249	6249			10461	protein-coding gene	gene with protein product	restin	179838	restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)	RSN	NA	8222754	Standard	NM_002956	NM_001247997	NA	Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000302528.7:c.1745C>T	12.37:g.122825973G>A	ENSP00000303585:p.Thr582Ile	NA	A0AVD3|Q17RS4|Q29RG0	37	CCDS9232.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727207	0.15439	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61627	2.74;0.69;0.69;0.7;0.69;0.09	5.37	0.13	0.14746	.	0.766493	0.13191	N	0.406706	T	0.23965	0.0580	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.18116	-1.0347	10	0.44086	T	0.13	3.1754	5.4745	0.16688	0.372:0.1308:0.4972:0.0	.	283;547;582;593	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	283;582;582;427;547;593;516	ENSP00000438743:T283I;ENSP00000303585:T582I;ENSP00000351665:T582I;ENSP00000445531:T547I;ENSP00000439093:T593I;ENSP00000437786:T516I	ENSP00000303585:T582I	T	-	2	0	CLIP1	121391926	0.848000	0.29623	0.000000	0.03702	0.566000	0.35808	2.612000	0.46343	0.033000	0.15463	0.561000	0.74099	ACC	CLIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401619.1		-	ENST00000302528.7	Missense_Mutation	SNP	12 : 122825973 - 122825973 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	885	7
CLTCL1	8218	broad.mit.edu	37	22	19220769	19220769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:19220769G>A	ENST00000263200.10	-	9	1513	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	481	Flexible linker.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.R481W(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATTTGCCCGAAGGTACACA	0.498		NA	T	?	ALCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	1	Substitution - Missense(1)	large_intestine(1)											143	140	141			NA	NA	22		NA											NA				19220769		1960	4163	6123	SO:0001583	missense				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371	8218	8218			2093	protein-coding gene	gene with protein product		601273	clathrin, heavy polypeptide-like 1	CLTCL	NA	8844170, 15133132	Standard	NM_007098	NM_007098	NA	Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1441C>T	22.37:g.19220769G>A	ENSP00000445677:p.Arg481Trp	NA	B7Z7U5|Q14017|Q15808|Q15809	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276926	0.59758	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.52295	0.67;0.67;0.67	3.92	2.89	0.33648	Armadillo-type fold (2);	0.000000	0.64402	D	0.000002	T	0.72724	0.3496	M	0.93106	3.38	0.58432	D	0.999991	D;D	0.76494	0.997;0.999	D;D	0.74674	0.984;0.947	T	0.79072	-0.1953	10	0.87932	D	0	-21.811	11.9849	0.53142	0.0867:0.0:0.9133:0.0	.	481;481	P53675-2;P53675	.;CLH2_HUMAN	W	481	ENSP00000439662:R481W;ENSP00000445677:R481W;ENSP00000441158:R481W	ENSP00000445677:R481W	R	-	1	2	CLTCL1	17600769	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.512000	0.45485	0.982000	0.38575	0.591000	0.81541	CGG	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316397.5		-	ENST00000263200.10	Missense_Mutation	SNP	22 : 19220769 - 19220769 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	737	6
CNOT2	4848	broad.mit.edu	37	12	70732321	70732321	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:70732321A>G	ENST00000418359.3	+	11	1450	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000229195.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	90	89			NA	NA	12		NA											NA				70732321		2203	4300	6503	SO:0001819	synonymous_variant			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596	4848	4848			7878	protein-coding gene	gene with protein product		604909		NOT2	NA	10637334	Standard		NM_014515	NA	Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.999A>G	12.37:g.70732321A>G		NA	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	5.067	0.198090	0.09652	.	.	ENSG00000111596	ENST00000552599	.	.	.	5.71	-0.549	0.11829	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50268	-0.8848	4	.	.	.	-7.611	9.9087	0.41392	0.6553:0.0:0.3447:0.0	.	.	.	.	G	44	.	.	R	+	1	2	CNOT2	69018588	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.180000	0.42537	-0.100000	0.12241	-0.376000	0.06991	AGG	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404260.1		+	ENST00000418359.3	Silent	SNP	12 : 70732321 - 70732321 G PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	439	4
CNTRL	11064	broad.mit.edu	37	9	123927306	123927306	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:123927306G>A	ENST00000373855.1	+	35	5769	c.5509G>A	c.(5509-5511)Gaa>Aaa	p.E1837K	CNTRL_ENST00000238341.5_Missense_Mutation_p.E1837K|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1285K|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1837					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACTGCAGCAGGAACTAGACCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	89	93			NA	NA	9		NA											NA				123927306		2203	4300	6503	SO:0001583	missense			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397	11064	11064			1858	protein-coding gene	gene with protein product		605496	centrosomal protein 1, centrosomal protein 110kDa	CEP1, CEP110	NA	10688839	Standard	NM_007018	XM_005251679	NA	Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5509G>A	9.37:g.123927306G>A	ENSP00000362962:p.Glu1837Lys	NA	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339302	0.95783	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.43294	1.2;1.2;0.95	5.8	5.8	0.92144	.	.	.	.	.	T	0.64461	0.2600	M	0.65498	2.005	0.50171	D	0.999853	D	0.69078	0.997	D	0.75020	0.985	T	0.62048	-0.6936	9	0.48119	T	0.1	.	19.0575	0.93072	0.0:0.0:1.0:0.0	.	1837	Q7Z7A1	CNTRL_HUMAN	K	1837;1837;1837;593;19;1285;519	ENSP00000362962:E1837K;ENSP00000238341:E1837K;ENSP00000362956:E1285K	ENSP00000238341:E1837K	E	+	1	0	CNTRL	122967127	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.929000	0.56514	2.758000	0.94735	0.563000	0.77884	GAA	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250216.1		+	ENST00000373855.1	Missense_Mutation	SNP	9 : 123927306 - 123927306 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	255	23
COL22A1	169044	broad.mit.edu	37	8	139737642	139737642	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:139737642C>T	ENST00000303045.6	-	24	2627	c.2181G>A	c.(2179-2181)ccG>ccA	p.P727P	COL22A1_ENST00000435777.1_Silent_p.P727P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	727	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGAACCTCCCGGTCCAGGGG	0.582		NA								HNSCC(7;0.00092)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	59	66	63		2181	-9.9	0.6	8		63	0,8600		0,0,4300	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		727/1627	139737642	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436	169044	169044		Collagens	22989	protein-coding gene	gene with protein product		610026			NA		Standard	XM_291257	NM_152888	NA	Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2181G>A	8.37:g.139737642C>T		NA	B7ZMH0|C9K0G4|Q8IVT9	37	CCDS6376.1																																																																																			COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315905.2		-	ENST00000303045.6	Silent	SNP	8 : 139737642 - 139737642 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	845	199
COL27A1	85301	broad.mit.edu	37	9	117029789	117029789	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:117029789G>A	ENST00000356083.3	+	34	3844	c.3453G>A	c.(3451-3453)ccG>ccA	p.P1151P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1151	Collagen-like 9.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTCAGGGGCCGCCTGGTGCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	67	73	71		3453	-10.2	0	9		71	0,8600		0,0,4300	no	coding-synonymous	COL27A1	NM_032888.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		1151/1861	117029789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739	85301	85301		Collagens	22986	protein-coding gene	gene with protein product		608461			NA	12766169	Standard	NM_032888	NM_032888	NA	Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3453G>A	9.37:g.117029789G>A		NA	Q66K43|Q96JF7	37	CCDS6802.1																																																																																			COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053763.1		+	ENST00000356083.3	Silent	SNP	9 : 117029789 - 117029789 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	269	25
COL6A1	1291	broad.mit.edu	37	21	47423408	47423408	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:47423408C>T	ENST00000361866.3	+	35	2682	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	856	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGCGCCTGGCCGAGCGCTTCC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	21		NA											NA				47423408		2188	4250	6438	SO:0001819	synonymous_variant			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156	1291	1291		Collagens	2211	protein-coding gene	gene with protein product		120220			NA		Standard	NM_001848	XM_006723964	NA	Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2568C>T	21.37:g.47423408C>T		NA	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	37	CCDS13727.1																																																																																			COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206877.1		+	ENST00000361866.3	Silent	SNP	21 : 47423408 - 47423408 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	191	31
CPED1	79974	broad.mit.edu	37	7	120770236	120770236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:120770236G>A	ENST00000310396.5	+	12	1932	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	CPED1_ENST00000450913.2_Missense_Mutation_p.A489T|CPED1_ENST00000423795.1_Missense_Mutation_p.A269T	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1	NA											NA						TTATGATGTGGCAAATCCTGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	142	144			NA	NA	7		NA											NA				120770236		2203	4300	6503	SO:0001583	missense				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034	79974	79974			26159	protein-coding gene	gene with protein product			chromosome 7 open reading frame 58	C7orf58	NA	20056006	Standard	NM_024913	NM_024913	NA	Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1465G>A	7.37:g.120770236G>A	ENSP00000309772:p.Ala489Thr	NA		37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563742	0.27915	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.46819	2.2;0.86;1.88;1.84;1.42	5.49	2.7	0.31948	.	0.681813	0.14243	N	0.331940	T	0.34366	0.0895	L	0.36672	1.1	0.09310	N	0.999997	B;B;B	0.17667	0.005;0.023;0.002	B;B;B	0.13407	0.009;0.007;0.007	T	0.19257	-1.0311	10	0.21540	T	0.41	.	8.9922	0.36030	0.2284:0.0:0.7716:0.0	.	269;489;489	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	T	489;489;489;269;269	ENSP00000309772:A489T;ENSP00000398082:A489T;ENSP00000406122:A489T;ENSP00000415573:A269T;ENSP00000391952:A269T	ENSP00000309772:A489T	A	+	1	0	C7orf58	120557472	0.123000	0.22298	0.001000	0.08648	0.762000	0.43233	1.419000	0.34793	0.804000	0.34136	0.557000	0.71058	GCA	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346959.1		+	ENST00000310396.5	Missense_Mutation	SNP	7 : 120770236 - 120770236 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	494	5
CUX1	1523	broad.mit.edu	37	7	101844663	101844663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:101844663G>A	ENST00000560541.1	+	14	1843				CUX1_ENST00000546411.2_Missense_Mutation_p.A594T|CUX1_ENST00000550008.2_Missense_Mutation_p.A640T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.A696T|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A538T|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.A707T|CUX1_ENST00000549414.2_Missense_Mutation_p.A674T|CUX1_ENST00000292538.4_Intron			P39880	CUX1_HUMAN	cut-like homeobox 1	NA					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCTTCCTCCGCATCCGGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	77	74			NA	NA	7		NA											NA				101844663		2203	4300	6503	SO:0001627	intron_variant			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923	1523	1523		Homeoboxes / CUT class	2557	protein-coding gene	gene with protein product	golgi integral membrane protein 6	116896	cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila)	CUTL1	NA	8468066, 9799793, 15004235	Standard	NM_001913	NM_001202543	NA	Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.1843+5780G>A	7.37:g.101844663G>A		NA	Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	37		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.548357	0.00926	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.17;0.2;0.25;0.16;0.25	4.73	-0.261	0.12963	.	0.366176	0.27604	N	0.018632	T	0.22551	0.0544	N	0.05124	-0.11	0.23411	N	0.997737	B;B	0.10296	0.002;0.003	B;B	0.06405	0.0;0.002	T	0.15578	-1.0432	10	0.06099	T	0.92	-2.5629	1.9807	0.03426	0.2937:0.1231:0.4569:0.1264	.	696;707	P39880;P39880-3	CUX1_HUMAN;.	T	707;696;674;640;594;538	ENSP00000353401:A707T;ENSP00000292535:A696T;ENSP00000446630:A674T;ENSP00000447373:A640T;ENSP00000450125:A594T;ENSP00000451558:A538T	ENSP00000292535:A696T	A	+	1	0	CUX1	101631383	0.011000	0.17503	0.000000	0.03702	0.276000	0.26787	0.224000	0.17738	-0.251000	0.09542	-0.140000	0.14226	GCA	CUX1-019	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000418419.1		+	ENST00000560541.1	Intron	SNP	7 : 101844663 - 101844663 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	807	6
CYP2C9	1559	broad.mit.edu	37	10	96748637	96748637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:96748637G>A	ENST00000260682.6	+	9	1337	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	442					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCCCTGGCCGGCATGGAGCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(54;1266 1406 16072 35076)							NA				0													156	145	149			NA	NA	10		NA											NA				96748637		2203	4300	6503	SO:0001583	missense			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109	1559	1559		Cytochrome P450s	2623	protein-coding gene	gene with protein product		601130	cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9	CYP2C10	NA	2009263, 7841444	Standard	NM_000771	NM_000771	NA	Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1325G>A	10.37:g.96748637G>A	ENSP00000260682:p.Gly442Asp	NA	P11713|Q16756|Q16872	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	9.583	1.123983	0.20959	.	.	ENSG00000138109	ENST00000260682	T	0.67865	-0.29	3.41	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.41903	0.1179	N	0.04508	-0.205	0.23425	N	0.997706	B;B	0.17465	0.022;0.022	B;B	0.14578	0.011;0.011	T	0.42932	-0.9422	10	0.87932	D	0	.	9.6892	0.40118	0.0:0.0:0.7903:0.2097	.	442;442	Q5VX92;P11712	.;CP2C9_HUMAN	D	442	ENSP00000260682:G442D	ENSP00000260682:G442D	G	+	2	0	CYP2C9	96738627	1.000000	0.71417	0.996000	0.52242	0.064000	0.16182	6.266000	0.72540	0.741000	0.32674	0.446000	0.29264	GGC	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049501.1		+	ENST00000260682.6	Missense_Mutation	SNP	10 : 96748637 - 96748637 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	677	6
CYP2F1	1572	broad.mit.edu	37	19	41633864	41633864	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	17	16			NA	NA	19		NA											NA				41633864		2198	4286	6484	SO:0001819	synonymous_variant			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446	1572	1572		Cytochrome P450s	2632	protein-coding gene	gene with protein product		124070	cytochrome P450, subfamily IIF, polypeptide 1	CYP2F	NA		Standard		NM_000774	NA	Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1353C>T	19.37:g.41633864C>T		NA	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q8WWJ2	37	CCDS12572.1																																																																																			CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394527.2		+	ENST00000331105.2	Silent	SNP	19 : 41633864 - 41633864 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	188	4
DAXX	1616	broad.mit.edu	37	6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.G55D|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	55	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602		NA	Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													221	227	225			NA	NA	6		NA											NA				33289539		2203	4300	6503	SO:0001583	missense			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209	1616	1616			2681	protein-coding gene	gene with protein product		603186	death-associated protein 6		NA	9407001, 9215629	Standard		NM_001141970	NA	Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.164G>A	6.37:g.33289539C>T	ENSP00000363668:p.Gly55Asp	NA	O14747|O15141|O15208|Q5STK9|Q9BWI3	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608951	0.28623	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	4.89	4.02	0.46733	.	0.660504	0.16364	N	0.217655	T	0.29355	0.0731	L	0.36672	1.1	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.44860	0.462;0.462	T	0.03503	-1.1030	9	0.25106	T	0.35	-0.4917	10.4358	0.44435	0.1947:0.8053:0.0:0.0	.	67;55	B4E1C1;Q9UER7	.;DAXX_HUMAN	D	55	.	ENSP00000266000:G55D	G	-	2	0	DAXX	33397517	0.869000	0.29996	0.983000	0.44433	0.735000	0.41995	1.033000	0.30191	1.281000	0.44480	0.549000	0.68633	GGC	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076403.1		-	ENST00000374542.5	Missense_Mutation	SNP	6 : 33289539 - 33289539 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1311	7
DEPDC1	55635	broad.mit.edu	37	1	68947194	68947194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:68947194G>A	ENST00000456315.2	-	9	1978	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.R338C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	622	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAAATCATACGCATTAAAAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	1		NA											NA				68947194		2203	4299	6502	SO:0001583	missense			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526	55635	55635			22949	protein-coding gene	gene with protein product		612002			NA		Standard	NM_017779	NM_001114120	NA	Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1864C>T	1.37:g.68947194G>A	ENSP00000412292:p.Arg622Cys	NA	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	37	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635313	0.47049	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.86627	-2.15;-2.15	5.72	4.78	0.61160	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	M	0.83483	2.645	0.44539	D	0.997495	P;D	0.89917	0.793;1.0	B;D	0.87578	0.181;0.998	D	0.93210	0.6599	10	0.72032	D	0.01	-2.5002	15.1757	0.72910	0.0:0.0:0.7481:0.2519	.	622;338	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	622;338	ENSP00000412292:R622C;ENSP00000360005:R338C	ENSP00000360005:R338C	R	-	1	0	DEPDC1	68719782	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.266000	0.51569	2.691000	0.91804	0.655000	0.94253	CGT	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025514.2		-	ENST00000456315.2	Missense_Mutation	SNP	1 : 68947194 - 68947194 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	147	10
DIO3	1735	broad.mit.edu	37	14	102028612	102028612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:102028612G>A	ENST00000510508.4	+	1	925	c.779G>A	c.(778-780)cGt>cAt	p.R260H	DIO3_ENST00000359323.3_Missense_Mutation_p.R234H			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	234					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TACTTCGAGCGTCTCTATGTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	63	61			NA	NA	14		NA											NA				102028612		2092	4200	6292	SO:0001583	missense			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406	1735	1735			2885	protein-coding gene	gene with protein product		601038		TXDI3	NA	9787088, 7593630	Standard	NM_001362	NM_001362	NA	Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.779G>A	14.37:g.102028612G>A	ENSP00000427336:p.Arg260His	NA	Q8WVN5	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902680	0.92035	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.51325	0.71;0.71	3.86	3.86	0.44501	.	0.000000	0.64402	U	0.000011	T	0.74869	0.3773	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82833	-0.0262	10	0.87932	D	0	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	234	P55073	IOD3_HUMAN	H	234;260	ENSP00000352273:R234H;ENSP00000427336:R260H	ENSP00000352273:R260H	R	+	2	0	DIO3;AL049836.1	101098365	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.515000	0.98015	1.998000	0.58463	0.462000	0.41574	CGT	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000361712.4		+	ENST00000510508.4	Missense_Mutation	SNP	14 : 102028612 - 102028612 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	509	45
DNAH5	1767	broad.mit.edu	37	5	13776708	13776708	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:13776708G>A	ENST00000265104.4	-	55	9317	c.9213C>T	c.(9211-9213)caC>caT	p.H3071H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3071	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAAGTAGTCGTGCAGGTTCT	0.468		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	105	108			NA	NA	5		NA											NA				13776708		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139	1767	1767		Axonemal dyneins	2950	protein-coding gene	gene with protein product	dynein heavy chain 5	603335	dynein, axonemal, heavy polypeptide 5		NA	9256245, 11788826	Standard	NM_001369	NM_001369	NA	Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9213C>T	5.37:g.13776708G>A		NA	Q92860|Q96L74|Q9H5S7|Q9HCG9	37	CCDS3882.1																																																																																			DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207057.2		-	ENST00000265104.4	Silent	SNP	5 : 13776708 - 13776708 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	567	8
DSC1	1823	broad.mit.edu	37	18	28723623	28723623	+	Silent	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28723623A>T	ENST00000257197.3	-	8	1332	c.1071T>A	c.(1069-1071)acT>acA	p.T357T	DSC1_ENST00000257198.5_Silent_p.T357T|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	357	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACTCACAGAAGTTTCTGTGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	105	106			NA	NA	18		NA											NA				28723623		2203	4300	6503	SO:0001819	synonymous_variant			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765	1823	1823		Cadherins / Major cadherins	3035	protein-coding gene	gene with protein product		125643			NA	8486729	Standard	NM_004948, NM_024421	NM_024421	NA	Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257197.3:c.1071T>A	18.37:g.28723623A>T		NA	Q9HB01	37	CCDS11895.1																																																																																			DSC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254945.1		-	ENST00000257197.3	Silent	SNP	18 : 28723623 - 28723623 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	210	21
DSCAM	1826	broad.mit.edu	37	21	41648061	41648061	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:41648061G>A	ENST00000400454.1	-	11	2796	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	773	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGACGTCTGCGCCCACATCGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(134;970 1778 1785 21664 32388)							NA				0													90	96	94			NA	NA	21		NA											NA				41648061		2076	4253	6329	SO:0001819	synonymous_variant			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587	1826	1826		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	3039	protein-coding gene	gene with protein product		602523			NA	9426258	Standard	NM_001389	NM_001271534	NA	Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2319C>T	21.37:g.41648061G>A		NA	O60468	37	CCDS42929.1																																																																																			DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195029.1		-	ENST00000400454.1	Silent	SNP	21 : 41648061 - 41648061 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	383	67
DSG4	147409	broad.mit.edu	37	18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28991295G>A	ENST00000359747.4	+	14	2325	c.2296G>A	c.(2296-2298)Gca>Aca	p.A766T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A747T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											55	54	54			NA	NA	18		NA											NA				28991295		2203	4300	6503	SO:0001583	missense			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065	147409	147409		Cadherins / Major cadherins	21307	protein-coding gene	gene with protein product		607892			NA	12648213	Standard	NM_177986	NM_001134453	NA	Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000359747.4:c.2296G>A	18.37:g.28991295G>A	ENSP00000352785:p.Ala766Thr	NA	A2RUI1|Q6Y9L9|Q8IXV4	37	CCDS45845.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081746	0.20309	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.97	3.21	0.36854	.	1.875210	0.03665	N	0.243122	T	0.47303	0.1438	L	0.46157	1.445	0.09310	N	1	B;B	0.19445	0.035;0.036	B;B	0.15870	0.014;0.012	T	0.23013	-1.0200	10	0.33141	T	0.24	.	6.4264	0.21772	0.2094:0.1314:0.6592:0.0	.	766;747	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	747;766	ENSP00000311859:A747T;ENSP00000352785:A766T	ENSP00000311859:A747T	A	+	1	0	DSG4	27245293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.646000	0.24797	0.413000	0.25759	-0.727000	0.03589	GCA	DSG4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447503.1		+	ENST00000359747.4	Missense_Mutation	SNP	18 : 28991295 - 28991295 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	377	5
EPHA8	2046	broad.mit.edu	37	1	22903359	22903359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:22903359G>A	ENST00000166244.3	+	3	881	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	270	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGAGCGGCGGGATGCCTGT	0.677		NA											G	1	5e-04	NA	NA	2184	NA	0.9996	,	,	NA	3e-04	0.0013	NA	NA	6e-04	0.7318	EXOME	NA	NA	4e-04	SNP								NA				0													23	24	24			NA	NA	1		NA											NA				22903359		2199	4296	6495	SO:0001583	missense			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.809G>A	1.37:g.22903359G>A	ENSP00000166244:p.Arg270Gln	NA	Q9NUA9|Q9P269	37	CCDS225.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.89	1.773458	0.31411	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97256	1.61;-4.31;-4.31	4.09	0.842	0.18927	.	0.145914	0.44097	N	0.000490	D	0.92120	0.7502	L	0.41236	1.265	0.37767	D	0.926539	B;B	0.22851	0.003;0.076	B;B	0.15870	0.004;0.014	D	0.85467	0.1170	10	0.45353	T	0.12	.	3.7537	0.08576	0.3071:0.0:0.5103:0.1826	.	270;270	P29322;P29322-2	EPHA8_HUMAN;.	Q	270	ENSP00000166244:R270Q;ENSP00000363775:R270Q;ENSP00000440274:R270Q	ENSP00000166244:R270Q	R	+	2	0	EPHA8	22775946	0.735000	0.28153	0.998000	0.56505	0.990000	0.78478	1.043000	0.30316	0.358000	0.24211	0.442000	0.29010	CGG	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Missense_Mutation	SNP	1 : 22903359 - 22903359 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	137	8
FBXL7	23194	broad.mit.edu	37	5	15928366	15928366	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	5		NA											NA				15928366		2118	4226	6344	SO:0001819	synonymous_variant			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580	23194	23194		F-boxes / Leucine-rich repeats	13604	protein-coding gene	gene with protein product		605656			NA	10048485, 10531035	Standard	NM_012304	NM_012304	NA	Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.495C>T	5.37:g.15928366C>T		NA	B9EGF1|O94926	37	CCDS54833.1																																																																																			FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366117.1		+	ENST00000504595.1	Silent	SNP	5 : 15928366 - 15928366 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	153	9
FBXW10	10517	broad.mit.edu	37	17	18671872	18671872	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:18671872T>C	ENST00000308799.4	+	9	2036	c.1817T>C	c.(1816-1818)gTg>gCg	p.V606A	FBXW10_ENST00000301938.4_Missense_Mutation_p.V577A|FBXW10_ENST00000395665.4_Missense_Mutation_p.V577A|FBXW10_ENST00000395667.1_Missense_Mutation_p.V577A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	577										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAGGGAGCCGTGAAATGCCTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	120	123			NA	NA	17		NA											NA				18671872		2203	4300	6503	SO:0001583	missense			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931	10517	10517		F-boxes / WD-40 domains, WD repeat domain containing	1211	protein-coding gene	gene with protein product		611679	chromosome 17 open reading frame 1A, F-box and WD-40 domain protein 10	C17orf1, C17orf1A	NA	9787083, 7586531	Standard	NM_031456	NM_001267585	NA	Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000308799.4:c.1817T>C	17.37:g.18671872T>C	ENSP00000310382:p.Val606Ala	NA	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	37		.	.	.	.	.	.	.	.	.	.	T	12.96	2.095926	0.36952	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	2.97	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.081272	0.49305	U	0.000154	D	0.86439	0.5933	M	0.90542	3.125	0.42816	D	0.993975	D;D;D;D	0.89917	0.999;0.998;0.997;1.0	D;D;D;D	0.83275	0.991;0.99;0.992;0.996	D	0.87673	0.2542	10	0.87932	D	0	.	9.3557	0.38164	0.0:0.0:0.0:1.0	.	577;606;577;577	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	577;606;577;577	ENSP00000379026:V577A;ENSP00000310382:V606A;ENSP00000306937:V577A;ENSP00000379025:V577A	ENSP00000306937:V577A	V	+	2	0	FBXW10	18612597	1.000000	0.71417	0.971000	0.41717	0.150000	0.21749	6.656000	0.74396	1.356000	0.45884	0.163000	0.16589	GTG	FBXW10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000130663.1		+	ENST00000308799.4	Missense_Mutation	SNP	17 : 18671872 - 18671872 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	291	5
FER1L6	654463	broad.mit.edu	37	8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	734						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCTATGCCCGCATCGCCTCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,3952		0,0,1976	100	103	102		2201	5.8	1	8		102	1,8321		0,1,4160	no	missense	FER1L6	NM_001039112.2	29	0,1,6136	AA,AG,GG	NA	0.012,0.0,0.0081	probably-damaging	734/1858	125035751	1,12273	1976	4161	6137	SO:0001583	missense			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814	654463	654463			28065	protein-coding gene	gene with protein product			fer-1-like 6 (C. elegans)		NA		Standard	NM_001039112	NM_001039112	NA	Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2201G>A	8.37:g.125035751G>A	ENSP00000428280:p.Arg734His	NA		37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971850	0.92919	0.0	1.2E-4	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79352	-1.26;-1.26	5.81	5.81	0.92471	Ferlin B-domain (1);	0.162857	0.34435	U	0.003970	D	0.89550	0.6747	M	0.91663	3.23	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	D	0.91017	0.4854	10	0.72032	D	0.01	.	12.8851	0.58038	0.0779:0.0:0.9221:0.0	.	734	Q2WGJ9	FR1L6_HUMAN	H	734	ENSP00000428280:R734H;ENSP00000381982:R734H	ENSP00000381982:R734H	R	+	2	0	FER1L6	125104932	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	9.072000	0.93986	2.751000	0.94390	0.555000	0.69702	CGC	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381400.1		+	ENST00000522917.1	Missense_Mutation	SNP	8 : 125035751 - 125035751 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	695	8
FLT4	2324	broad.mit.edu	37	5	180051060	180051060	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180051060G>A	ENST00000261937.6	-	11	1501	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Splice_Site_p.R475W|FLT4_ENST00000502649.1_Splice_Site_p.R475W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	475	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGCCGCCGGCTGCCAGGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													34	33	33			NA	NA	5		NA											NA				180051060		2202	4298	6500	SO:0001630	splice_region_variant			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1422-1C>T	5.37:g.180051060G>A		NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228890	0.39399	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.77489	-1.1;-1.09;-1.09	4.79	2.85	0.33270	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);	.	.	.	.	T	0.68650	0.3024	N	0.08118	0	0.43462	D	0.995669	D;D;D;D	0.71674	0.998;0.998;0.996;0.998	P;P;P;P	0.58970	0.849;0.809;0.72;0.72	T	0.66344	-0.5947	9	0.37606	T	0.19	.	7.737	0.28821	0.084:0.0:0.7557:0.1603	.	475;285;475;475	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	475;475;475;285	ENSP00000261937:R475W;ENSP00000377016:R475W;ENSP00000426057:R475W	ENSP00000261937:R475W	R	-	1	2	FLT4	179983666	0.775000	0.28604	0.985000	0.45067	0.017000	0.09413	0.047000	0.14056	1.163000	0.42636	-0.258000	0.10820	CGG	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4	Missense_Mutation	-	ENST00000261937.6	Splice_Site	SNP	5 : 180051060 - 180051060 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	245	32
FMNL3	91010	broad.mit.edu	37	12	50050953	50050953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:50050953C>T	ENST00000335154.5	-	7	859	c.626G>A	c.(625-627)cGc>cAc	p.R209H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R158H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R209H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R209H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	209	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGGGCCCTGCGCCCAGGGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4032		0,0,2016	80	81	81		626,473	5.4	1	12		81	2,8380		0,2,4189	yes	missense,missense	FMNL3	NM_175736.4,NM_198900.2	29,29	0,2,6205	TT,TC,CC	NA	0.0239,0.0,0.0161	probably-damaging,probably-damaging	209/1028,158/977	50050953	2,12412	2016	4191	6207	SO:0001583	missense			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10					91010	91010			23698	protein-coding gene	gene with protein product					NA	12684686	Standard	NM_175736	NM_198900	NA	Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000335154.5:c.626G>A	12.37:g.50050953C>T	ENSP00000335655:p.Arg209His	NA	B0JZA7|Q6ZRJ1	37	CCDS44874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423799	0.96111	0.0	2.39E-4	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.81821	-1.51;-1.5;-1.54;-1.5	5.45	5.45	0.79879	.	0.052637	0.64402	D	0.000001	D	0.89832	0.6829	M	0.77616	2.38	0.49915	D	0.999834	D;D	0.76494	0.999;0.994	D;P	0.80764	0.994;0.754	D	0.89710	0.3911	10	0.52906	T	0.07	.	18.4343	0.90638	0.0:1.0:0.0:0.0	.	158;209	Q8IVF7-2;Q8IVF7-3	.;.	H	209;209;158;209	ENSP00000335655:R209H;ENSP00000447479:R209H;ENSP00000344311:R158H;ENSP00000293590:R209H	ENSP00000293590:R209H	R	-	2	0	FMNL3	48337220	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.865000	0.62998	2.744000	0.94065	0.561000	0.74099	CGC	FMNL3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405275.1		-	ENST00000335154.5	Missense_Mutation	SNP	12 : 50050953 - 50050953 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	521	89
FZD3	7976	broad.mit.edu	37	8	28385210	28385210	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:28385210G>T	ENST00000240093.3	+	5	1411	c.933G>T	c.(931-933)tgG>tgT	p.W311C	FZD3_ENST00000537916.1_Missense_Mutation_p.W311C	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	311					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCATCACATGGTTTTTAGCAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	8		NA											NA				28385210		2203	4300	6503	SO:0001583	missense			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290	7976	7976		GPCR / Class F : Frizzled receptors	4041	protein-coding gene	gene with protein product		606143	frizzled (Drosophila) homolog 3, frizzled homolog 3 (Drosophila), frizzled 3, seven transmembrane spanning receptor, frizzled family receptor 3		NA	10777673, 10873558	Standard	NM_145866	NM_145866	NA	Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.933G>T	8.37:g.28385210G>T	ENSP00000240093:p.Trp311Cys	NA		37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476133	0.63737	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	17.5384	0.87840	0.0:0.0:1.0:0.0	.	311	Q9NPG1	FZD3_HUMAN	C	311	ENSP00000437489:W311C;ENSP00000240093:W311C	ENSP00000240093:W311C	W	+	3	0	FZD3	28441129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.482000	0.83794	0.563000	0.77884	TGG	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219986.2		+	ENST00000240093.3	Missense_Mutation	SNP	8 : 28385210 - 28385210 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	481	65
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573	by1000genomes	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	368					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GTTGACAGCCGCATACTCCAG	0.597		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	4e-04	0.0013	NA	NA	5e-04	0.8415	LOWCOV	NA	NA	2e-04	SNP								NA				3	Substitution - Missense(3)	prostate(2)|lung(1)											116	88	97			NA	NA	6		NA											NA				89974189		2203	4300	6503	SO:0001583	missense				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886	2570	2570		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4091	protein-coding gene	gene with protein product	GABA(A) receptor, rho 2	137162	gamma-aminobutyric acid (GABA) receptor, rho 2		NA	1315307	Standard		NM_002043	NA	Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val	NA	A2BDE4|Q9H153	37	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041482.3		-	ENST00000402938.3	Missense_Mutation	SNP	6 : 89974189 - 89974189 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	222	4
GALNT16	57452	broad.mit.edu	37	14	69787575	69787575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:69787575C>T	ENST00000337827.4	+	2	652	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	GALNT16_ENST00000448469.3_Missense_Mutation_p.R109C|GALNT16_ENST00000553669.1_Missense_Mutation_p.R109C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			polypeptide N-acetylgalactosaminyltransferase 16	NA											NA						CCGGGACACCCGCCATTACAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	56			NA	NA	14		NA											NA				69787575		2203	4300	6503	SO:0001583	missense			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	57452	57452	2.4.1.41	Glycosyltransferase family 2 domain containing	23233	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 16	615132	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16	GALNTL1	NA	10574461, 22186971	Standard	NM_001168368	NM_020692	NA	Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.325C>T	14.37:g.69787575C>T	ENSP00000336729:p.Arg109Cys	NA		37	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273185	0.80580	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.62788	0.0;0.0;0.0	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85654	0.1284	10	0.87932	D	0	.	12.7073	0.57067	0.275:0.725:0.0:0.0	.	109;109	Q8N428;Q58A55	GLTL1_HUMAN;.	C	109	ENSP00000336729:R109C;ENSP00000402970:R109C;ENSP00000451200:R109C	ENSP00000336729:R109C	R	+	1	0	GALNTL1	68857328	0.997000	0.39634	1.000000	0.80357	0.843000	0.47879	3.698000	0.54771	2.660000	0.90430	0.650000	0.86243	CGC	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412434.1		+	ENST00000337827.4	Missense_Mutation	SNP	14 : 69787575 - 69787575 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	317	5
GALNT5	11227	broad.mit.edu	37	2	158157422	158157422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:158157422C>T	ENST00000463418.1	+	0	108				GALNT5_ENST00000259056.4_Nonsense_Mutation_p.R784*			Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	NA					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R784*(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAGGGAGCTGCGAAAGAAACT	0.493		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				1	Substitution - Nonsense(1)	endometrium(1)						C	stop/ARG	0,4406		0,0,2203	102	96	98		2350	5.5	1	2		98	4,8596	3.7+/-12.6	0,4,4296	yes	stop-gained	GALNT5	NM_014568.1		0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308		784/941	158157422	4,13002	2203	4300	6503	SO:0001624	3_prime_UTR_variant			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	11227	11227	2.4.1.41	Glycosyltransferase family 2 domain containing	4127	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 5	615129	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)		NA	10545594	Standard	NM_014568	NM_014568	NA	Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000463418.1:c.*105C>T	2.37:g.158157422C>T		NA	Q9UGK7|Q9UHL6	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	45	11.896958	0.99615	0.0	4.65E-4	ENSG00000136542	ENST00000259056	.	.	.	5.54	5.54	0.83059	.	0.059008	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7937	0.57549	0.2814:0.7186:0.0:0.0	.	.	.	.	X	784	.	ENSP00000259056:R784X	R	+	1	2	GALNT5	157865668	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	1.927000	0.40094	2.598000	0.87819	0.563000	0.77884	CGA	GALNT5-002	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000332667.1		+	ENST00000463418.1	3'UTR	SNP	2 : 158157422 - 158157422 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	190	17
GIT1	28964	broad.mit.edu	37	17	27908966	27908966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:27908966C>T	ENST00000225394.3	-	5	850	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GIT1_ENST00000581348.1_Missense_Mutation_p.R201H|GIT1_ENST00000394869.3_Missense_Mutation_p.R201H|GIT1_ENST00000579937.1_Missense_Mutation_p.R201H|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	201					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AATGGGTGTGCGGCCATTAAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(81;41 1719 20078 35068)							NA				0													67	55	59			NA	NA	17		NA											NA				27908966		2203	4300	6503	SO:0001583	missense			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262	28964	28964		ADP-ribosylation factor GTPase activating proteins, Ankyrin repeat domain containing	4272	protein-coding gene	gene with protein product		608434	G protein-coupled receptor kinase interactor 1		NA	9826657, 10896954	Standard	NM_014030	NM_014030	NA	Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.602G>A	17.37:g.27908966C>T	ENSP00000225394:p.Arg201His	NA	B4DSV3|Q86SS0|Q9BRJ4	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063141	0.76187	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.66460	-0.21;-0.21	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.45470	1.425	0.51012	D	0.999901	P;P;P;P	0.39250	0.665;0.482;0.538;0.538	B;B;B;B	0.37650	0.255;0.094;0.153;0.108	T	0.67381	-0.5685	10	0.56958	D	0.05	.	18.7075	0.91644	0.0:1.0:0.0:0.0	.	205;201;201;201	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	201	ENSP00000225394:R201H;ENSP00000378338:R201H	ENSP00000225394:R201H	R	-	2	0	GIT1	24933092	0.094000	0.21725	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	2.826000	0.97356	0.655000	0.94253	CGC	GIT1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256073.1		-	ENST00000225394.3	Missense_Mutation	SNP	17 : 27908966 - 27908966 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	325	5
GLG1	2734	broad.mit.edu	37	16	74527016	74527016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:74527016C>T	ENST00000422840.2	-	7	1072	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	GLG1_ENST00000205061.5_Missense_Mutation_p.R358H|GLG1_ENST00000447066.2_Missense_Mutation_p.R347H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	358						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGCTTTTGGCGGGTTGTAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	123	128			NA	NA	16		NA											NA				74527016		2198	4300	6498	SO:0001583	missense				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863	2734	2734			4316	protein-coding gene	gene with protein product		600753	golgi apparatus protein 1		NA	8530051, 7531823	Standard	NM_012201	NM_012201	NA	Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1073G>A	16.37:g.74527016C>T	ENSP00000405984:p.Arg358His	NA	D3DUJ7|Q13221|Q6P9D1	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459970	0.96240	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.83731	0.0198	9	0.72032	D	0.01	-3.7566	19.793	0.96468	0.0:1.0:0.0:0.0	.	358;358;347	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	H	358;347;358	.	ENSP00000205061:R358H	R	-	2	0	GLG1	73084517	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.564000	0.82326	2.744000	0.94065	0.655000	0.94253	CGC	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435750.1		-	ENST00000422840.2	Missense_Mutation	SNP	16 : 74527016 - 74527016 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	479	6
GNAZ	2781	broad.mit.edu	37	22	23438122	23438122	+	Silent	SNP	G	G	A	rs143475223		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23438122G>A	ENST00000248996.4	+	2	906	c.240G>A	c.(238-240)tcG>tcA	p.S80S	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	80						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCATCGACTCGCTGACCCGCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	155	160	158		240,	-8.1	0.9	22	dbSNP_134	158	0,8600		0,0,4300	no	coding-synonymous,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	80/356,	23438122	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266	2781	2781			4395	protein-coding gene	gene with protein product		139160			NA	2115889	Standard	NM_002073	NM_002073	NA	Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.240G>A	22.37:g.23438122G>A		NA	B2R6C1|Q4QRJ6	37	CCDS13804.1																																																																																			GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319073.1		+	ENST00000248996.4	Silent	SNP	22 : 23438122 - 23438122 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1144	57
GRIA1	2890	broad.mit.edu	37	5	153174277	153174277	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:153174277C>T	ENST00000518783.1	+	14	2424	c.2397C>T	c.(2395-2397)agC>agT	p.S799S	GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000285900.5_Silent_p.S789S|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Silent_p.S709S	NM_001258021.1	NP_001244950.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	789					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTGCGGCAGCGGGGGAGGTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	52	52			NA	NA	5		NA											NA				153174277		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511	NA	2890		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4571	protein-coding gene	gene with protein product		138248		GLUR1	NA	1652753, 1319477	Standard		NM_000827	NA	Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000518783.1:c.2397C>T	5.37:g.153174277C>T		NA	D3DQI4|Q2NKM6	37	CCDS58987.1																																																																																			GRIA1-007	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373902.3		+	ENST00000518783.1	Silent	SNP	5 : 153174277 - 153174277 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	271	47
GRIK5	2901	broad.mit.edu	37	19	42546729	42546729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42546729C>T	ENST00000262895.3	-	11	1447	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	GRIK5_ENST00000593562.1_Missense_Mutation_p.G483D|GRIK5_ENST00000301218.4_Missense_Mutation_p.G483D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	483						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCCAACCATGCCCGTCCAGGA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	19		NA											NA				42546729		2202	4297	6499	SO:0001583	missense				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737	2901	2901		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4583	protein-coding gene	gene with protein product		600283		GRIK2	NA	7527545	Standard		NM_002088	NA	Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1448G>A	19.37:g.42546729C>T	ENSP00000262895:p.Gly483Asp	NA	Q8WWG8	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610721	0.96637	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.95949	-3.86;-3.86	6.17	6.17	0.99709	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99107	1.0845	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	483	Q16478	GRIK5_HUMAN	D	483	ENSP00000262895:G483D;ENSP00000301218:G483D	ENSP00000262895:G483D	G	-	2	0	GRIK5	47238569	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.699000	0.84547	2.941000	0.99782	0.655000	0.94253	GGC	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463453.1		-	ENST00000262895.3	Missense_Mutation	SNP	19 : 42546729 - 42546729 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	593	6
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCTTGGCCGTGCGCAGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	142	146			NA	NA	12		NA											NA				13717461		2203	4300	6503	SO:0001583	missense				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met	NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Missense_Mutation	SNP	12 : 13717461 - 13717461 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1000	6
GYS2	2998	broad.mit.edu	37	12	21721886	21721886	+	Nonsense_Mutation	SNP	G	G	A	rs121918419		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21721886G>A	ENST00000261195.2	-	5	990	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	246					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.R246*(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGAAGCTCGCTCCATGCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(149;9 1820 3690 10544 50424)							NA				1	Substitution - Nonsense(1)	large_intestine(1)	GRCh37	CM980965	GYS2	M	rs121918419						161	154	156			NA	NA	12		NA											NA				21721886		2203	4300	6503	SO:0001587	stop_gained				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2998	2998	2.4.1.11	Glycosyltransferase group 1 domain containing	4707	protein-coding gene	gene with protein product		138571			NA		Standard	NM_021957	NM_021957	NA	Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.736C>T	12.37:g.21721886G>A	ENSP00000261195:p.Arg246*	NA	A0AVD8	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	39	7.668078	0.98422	.	.	ENSG00000111713	ENST00000261195	.	.	.	5.16	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9125	15.0535	0.71894	0.0:0.0:0.8571:0.1429	.	.	.	.	X	246	.	ENSP00000261195:R246X	R	-	1	2	GYS2	21613153	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.419000	0.52728	1.363000	0.46019	0.655000	0.94253	CGA	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402396.1		-	ENST00000261195.2	Nonsense_Mutation	SNP	12 : 21721886 - 21721886 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	490	6
GYS2	2998	broad.mit.edu	37	12	21733405	21733405	+	Silent	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21733405T>C	ENST00000261195.2	-	2	428	c.174A>G	c.(172-174)gaA>gaG	p.E58E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	58					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCTCCCCATTCATCTGCTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(149;9 1820 3690 10544 50424)							NA				0													193	184	187			NA	NA	12		NA											NA				21733405		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2998	2998	2.4.1.11	Glycosyltransferase group 1 domain containing	4707	protein-coding gene	gene with protein product		138571			NA		Standard	NM_021957	NM_021957	NA	Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.174A>G	12.37:g.21733405T>C		NA	A0AVD8	37	CCDS8690.1																																																																																			GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402396.1		-	ENST00000261195.2	Silent	SNP	12 : 21733405 - 21733405 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	590	22
GZMM	3004	broad.mit.edu	37	19	547338	547338	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:547338G>A	ENST00000264553.3	+	2	152	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	38	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCGCGCCCGTACATGGCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	63	64	64		114	-7.3	0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMM	NM_005317.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		38/258	547338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540	3004	3004			4712	protein-coding gene	gene with protein product	lymphocyte met-ase 1	600311			NA	8119738	Standard	NM_005317	NM_005317	NA	Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.114G>A	19.37:g.547338G>A		NA		37	CCDS12031.1																																																																																			GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451895.2		+	ENST00000264553.3	Silent	SNP	19 : 547338 - 547338 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	588	6
HECW2	57520	broad.mit.edu	37	2	197135945	197135945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197135945G>A	ENST00000409111.1	-	15	3253	c.2239C>T	c.(2239-2241)Cct>Tct	p.P747S	HECW2_ENST00000260983.3_Missense_Mutation_p.P1103S			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1103	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTAAGATCAGGTTGACGCTCC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	2		NA											NA				197135945		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.2239C>T	2.37:g.197135945G>A	ENSP00000386775:p.Pro747Ser	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.186065	0.78789	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84660	-1.88;-1.88	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	P	0.49140	0.601	T	0.82764	-0.0296	10	0.22706	T	0.39	.	19.8791	0.96888	0.0:0.0:1.0:0.0	.	1103	Q9P2P5	HECW2_HUMAN	S	747;1103	ENSP00000386775:P747S;ENSP00000260983:P1103S	ENSP00000260983:P1103S	P	-	1	0	HECW2	196844190	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.821000	0.99360	2.706000	0.92434	0.467000	0.42956	CCT	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	Missense_Mutation	SNP	2 : 197135945 - 197135945 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	244	22
HPS1	3257	broad.mit.edu	37	10	100185374	100185374	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:100185374C>T	ENST00000325103.6	-	13	1492	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R420H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	420					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGGCTGGGAGCGCAGGGAGGC	0.637		NA							Hermansky-Pudlak syndrome		OREG0020430	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													48	41	43			NA	NA	10		NA											NA				100185374		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521	3257	3257			5163	protein-coding gene	gene with protein product		604982	Hermansky-Pudlak syndrome	HPS	NA	8541858, 7573033	Standard	NM_000195, NM_182637, NM_182638, NM_182639	NM_182639	NA	Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1259G>A	10.37:g.100185374C>T	ENSP00000326649:p.Arg420His	1349	A8MRT2|O15402|O15502|Q5TAA3	37	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916483	0.73098	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632	T;T;T	0.33438	1.41;1.41;1.41	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.999;1.0	T	0.60125	-0.7324	10	0.48119	T	0.1	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	58;387;420;420	Q658M9;Q92902-2;Q8WXE5;D3DR62	.;.;.;.	H	420;420;387;215	ENSP00000326649:R420H;ENSP00000355310:R420H;ENSP00000352652:R215H	ENSP00000326649:R420H	R	-	2	0	HPS1	100175364	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.418000	0.66429	2.524000	0.85096	0.561000	0.74099	CGC	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049776.1		-	ENST00000325103.6	Missense_Mutation	SNP	10 : 100185374 - 100185374 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	205	28
HPX	3263	broad.mit.edu	37	11	6461433	6461433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6461433C>T	ENST00000265983.3	-	4	398	c.298G>A	c.(298-300)Gca>Aca	p.A100T	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	100	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGACGGAATGCAGCATCCACA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	113	117			NA	NA	11		NA											NA				6461433		2201	4296	6497	SO:0001583	missense			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169	3263	3263			5171	protein-coding gene	gene with protein product		142290			NA	2989777, 2842511	Standard	NM_000613	NM_000613	NA	Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.298G>A	11.37:g.6461433C>T	ENSP00000265983:p.Ala100Thr	NA	B2R957	37	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412896	0.83340	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.06528	3.29	4.92	4.92	0.64577	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.92122	3.275	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.40496	-0.9560	10	0.87932	D	0	-23.7514	15.653	0.77112	0.0:1.0:0.0:0.0	.	100;100	B7Z8Q4;P02790	.;HEMO_HUMAN	T	100	ENSP00000265983:A100T	ENSP00000265983:A100T	A	-	1	0	HPX	6418009	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.482000	0.53186	2.554000	0.86153	0.555000	0.69702	GCA	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257256.1		-	ENST00000265983.3	Missense_Mutation	SNP	11 : 6461433 - 6461433 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	388	6
INS-IGF2	723961	broad.mit.edu	37	11	2182109	2182109	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000381330.4_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000512523.1_Silent_p.C31C	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	INS-IGF2 readthrough	31					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	11		NA											NA				2182109		2200	4299	6499	SO:0001819	synonymous_variant			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965	723961	723961			33527	other	readthrough					NA	16531418	Standard	NM_001042376.2	NM_001042376	NA	Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.93C>T	11.37:g.2182109G>A		NA		37	CCDS41598.1																																																																																			INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388404.1		-	ENST00000397270.1	Silent	SNP	11 : 2182109 - 2182109 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	374	5
INSM1	3642	broad.mit.edu	37	20	20349690	20349690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:20349690C>T	ENST00000310227.1	+	1	926	c.779C>T	c.(778-780)gCg>gTg	p.A260V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	260					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		gcggggggcgcggcgcggccg	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	6	6			NA	NA	20		NA											NA				20349690		1939	3835	5774	SO:0001583	missense				CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404	3642	3642			6090	protein-coding gene	gene with protein product		600010			NA	8188699, 16569215	Standard	NM_002196	NM_002196	NA	Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.779C>T	20.37:g.20349690C>T	ENSP00000312631:p.Ala260Val	NA		37	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	4.993	0.184394	0.09495	.	.	ENSG00000173404	ENST00000310227	T	0.00711	5.8	3.53	2.46	0.29980	.	0.183785	0.33553	U	0.004798	T	0.00496	0.0016	N	0.12182	0.205	0.24619	N	0.993683	B	0.33103	0.397	B	0.20184	0.028	T	0.53906	-0.8372	10	0.41790	T	0.15	.	6.9677	0.24632	0.0:0.5981:0.2959:0.1059	.	260	Q01101	INSM1_HUMAN	V	260	ENSP00000312631:A260V	ENSP00000312631:A260V	A	+	2	0	INSM1	20297690	0.003000	0.15002	0.122000	0.21767	0.349000	0.29174	1.908000	0.39907	1.699000	0.51192	0.306000	0.20318	GCG	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078223.1		+	ENST00000310227.1	Missense_Mutation	SNP	20 : 20349690 - 20349690 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	88	13
IRX6	79190	broad.mit.edu	37	16	55361532	55361532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:55361532C>T	ENST00000290552.7	+	4	1780	c.448C>T	c.(448-450)Cga>Tga	p.R150*	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGCCGGTCGCCGAAAGAACGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	57	62			NA	NA	16		NA											NA				55361532		2198	4300	6498	SO:0001587	stop_gained			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387	79190	79190		Homeoboxes / TALE class	14675	protein-coding gene	gene with protein product		606196	iroquois homeobox protein 7, iroquois homeobox protein 6	IRX7	NA		Standard	NM_024335	NM_024335	NA	Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.448C>T	16.37:g.55361532C>T	ENSP00000290552:p.Arg150*	NA	B2RN06|Q7Z2K0	37	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	47	13.157336	0.99723	.	.	ENSG00000159387	ENST00000290552	.	.	.	6.08	-6.48	0.01896	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7892	21.412	0.99953	0.7449:0.2551:0.0:0.0	.	.	.	.	X	150	.	ENSP00000290552:R150X	R	+	1	2	IRX6	53919033	0.747000	0.28283	0.913000	0.36048	0.165000	0.22458	1.262000	0.32992	-1.091000	0.03065	-0.989000	0.02550	CGA	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417445.4		+	ENST00000290552.7	Nonsense_Mutation	SNP	16 : 55361532 - 55361532 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	189	12
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	632	10
KCNA6	3742	broad.mit.edu	37	12	4919470	4919470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:4919470G>A	ENST00000280684.3	+	1	1129	c.263G>A	c.(262-264)cGc>cAc	p.R88H	KCNA6_ENST00000433855.1_Missense_Mutation_p.R88H			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	88						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCTTCGACCGCAACCGGCCC	0.637		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	12		NA											NA				4919470		2203	4300	6503	SO:0001583	missense			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.263G>A	12.37:g.4919470G>A	ENSP00000280684:p.Arg88His	NA		37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776125	0.90195	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.90261	-2.64;-2.64	4.45	4.45	0.53987	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99170	1.0864	10	0.87932	D	0	.	16.2612	0.82547	0.0:0.0:1.0:0.0	.	88	P17658	KCNA6_HUMAN	H	88	ENSP00000408321:R88H;ENSP00000280684:R88H	ENSP00000280684:R88H	R	+	2	0	KCNA6	4789731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.490000	0.97952	2.291000	0.77112	0.462000	0.41574	CGC	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Missense_Mutation	SNP	12 : 4919470 - 4919470 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	584	5
KCNJ12	3768	broad.mit.edu	37	17	21319100	21319100	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:21319100G>A	ENST00000583088.1	+	3	1341	c.446G>A	c.(445-447)cGc>cAc	p.R149H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R149H	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TACGGGCTGCGCTGTGTGACG	0.642		NA								Prostate(3;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	17		NA											NA				21319100		2203	4300	6503	SO:0001583	missense			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.446G>A	17.37:g.21319100G>A	ENSP00000463778:p.Arg149His	NA		37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998856	0.93227	.	.	ENSG00000184185	ENST00000331718	D	0.97016	-4.21	5.32	5.32	0.75619	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99663	1.0994	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	149	Q14500	IRK12_HUMAN	H	149	ENSP00000328150:R149H	ENSP00000328150:R149H	R	+	2	0	KCNJ12	21259693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	CGC	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Missense_Mutation	SNP	17 : 21319100 - 21319100 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	357	18
KIAA1407	57577	broad.mit.edu	37	3	113755633	113755633	+	Splice_Site	SNP	T	T	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113755633T>A	ENST00000295878.3	-	5	562	c.416A>T	c.(415-417)gAt>gTt	p.D139V	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	139										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCACATAAATCTGGGGGAAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	62	63			NA	NA	3		NA											NA				113755633		2203	4300	6503	SO:0001630	splice_region_variant			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617	57577	57577			29272	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_020817	NM_020817	NA	Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.416-1A>T	3.37:g.113755633T>A		NA	Q9P2E0	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949426	0.73787	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.52983	1.26;0.64	5.28	5.28	0.74379	.	0.056870	0.64402	D	0.000002	T	0.62660	0.2446	L	0.55481	1.735	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.989	P;D;P	0.66497	0.9;0.944;0.892	T	0.64521	-0.6388	10	0.56958	D	0.05	.	15.3725	0.74577	0.0:0.0:0.0:1.0	.	126;15;139	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	V	139;126;103	ENSP00000295878:D139V;ENSP00000418099:D126V	ENSP00000295878:D139V	D	-	2	0	KIAA1407	115238323	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	5.908000	0.69916	2.207000	0.71202	0.528000	0.53228	GAT	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354724.2	Missense_Mutation	-	ENST00000295878.3	Splice_Site	SNP	3 : 113755633 - 113755633 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	193	43
KIAA1432	0	broad.mit.edu	37	9	5765691	5765691	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:5765691C>T	ENST00000414202.2	+	21	3221	c.3030C>T	c.(3028-3030)ttC>ttT	p.F1010F	KIAA1432_ENST00000449720.2_Silent_p.F894F|KIAA1432_ENST00000381532.2_Silent_p.F931F|KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000418622.3_Silent_p.F931F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		1010						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATTTGAGTTCTTCAGGAATC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	230	232			NA	NA	9		NA											NA				5765691		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000414202.2:c.3030C>T	9.37:g.5765691C>T		NA	Q4VXJ8|Q4VXJ9|Q76MT5|Q8N6E0|Q8TEH4|Q9H0A5|Q9H9S1	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173584	0.21704	.	.	ENSG00000107036	ENST00000545641	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.77336	0.4115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	-18.4469	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	F	902	.	.	L	+	1	0	KIAA1432	5755691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.004000	0.49513	2.873000	0.98535	0.563000	0.77884	CTT	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051636.3		+	ENST00000414202.2	Silent	SNP	9 : 5765691 - 5765691 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1050	106
KIF1A	547	broad.mit.edu	37	2	241679772	241679772	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:241679772C>T	ENST00000320389.7	-	34	3614	c.3456G>A	c.(3454-3456)ccG>ccA	p.P1152P	KIF1A_ENST00000498729.2_Silent_p.P1253P	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1152					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCACCACGGCCGGGATGTAAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	73	70			NA	NA	2		NA											NA				241679772		2053	4188	6241	SO:0001819	synonymous_variant			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294	547	547		Kinesins, Pleckstrin homology (PH) domain containing	888	protein-coding gene	gene with protein product		601255	axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)	ATSV, C2orf20, SPG30	NA	7539720, 10323250, 22258533	Standard	NM_138483	NM_001244008	NA	Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3456G>A	2.37:g.241679772C>T		NA	O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824643	0.16678	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.3	-8.6	0.00889	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	0.4882	0.00559	0.3187:0.2189:0.1339:0.3285	.	.	.	.	Q	76	.	.	R	-	2	0	KIF1A	241328445	0.000000	0.05858	0.332000	0.25469	0.904000	0.53231	-1.756000	0.01813	-2.439000	0.00551	-1.728000	0.00702	CGG	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324536.3		-	ENST00000320389.7	Silent	SNP	2 : 241679772 - 241679772 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	347	85
KIF4B	285643	broad.mit.edu	37	5	154393886	154393886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:154393886G>A	ENST00000435029.4	+	1	627	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	156	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R156L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCCATCTCGTGAGAAAGCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											157	160	159			NA	NA	5		NA											NA				154393886		2203	4300	6503	SO:0001583	missense			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650	285643	285643		Kinesins	6322	protein-coding gene	gene with protein product		609184			NA		Standard		NM_001099293	NA	Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.467G>A	5.37:g.154393886G>A	ENSP00000387875:p.Arg156His	NA		37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	9.001	0.980005	0.18812	.	.	ENSG00000226650	ENST00000435029	T	0.72835	-0.69	1.73	0.834	0.18880	Kinesin, motor domain (4);	.	.	.	.	T	0.57169	0.2035	L	0.39514	1.22	0.36431	D	0.864927	B	0.14012	0.009	B	0.18561	0.022	T	0.55256	-0.8169	9	0.54805	T	0.06	.	6.1483	0.20298	0.1824:0.0:0.8176:0.0	.	156	Q2VIQ3	KIF4B_HUMAN	H	156	ENSP00000387875:R156H	ENSP00000387875:R156H	R	+	2	0	KIF4B	154374079	0.001000	0.12720	0.940000	0.37924	0.851000	0.48451	-1.547000	0.02186	0.307000	0.22880	0.655000	0.94253	CGT	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377478.1		+	ENST00000435029.4	Missense_Mutation	SNP	5 : 154393886 - 154393886 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	719	150
KIF6	221458	broad.mit.edu	37	6	39513398	39513398	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:39513398C>T	ENST00000287152.7	-	11	1342	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373216.3_Silent_p.A416A|KIF6_ENST00000538893.1_Silent_p.A416A|KIF6_ENST00000373213.4_Silent_p.A255A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TACGCATATCCGCGCCAACCT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	115			NA	NA	6		NA											NA				39513398		2203	4300	6503	SO:0001819	synonymous_variant			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627	221458	221458		Kinesins	21202	protein-coding gene	gene with protein product		613919	chromosome 6 open reading frame 102	C6orf102	NA		Standard	NM_145027	NM_145027	NA	Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1248G>A	6.37:g.39513398C>T		NA	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	37	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	1.650	-0.514326	0.04200	.	.	ENSG00000164627	ENST00000458470	.	.	.	5.56	-10.3	0.00346	.	.	.	.	.	T	0.26231	0.0640	.	.	.	0.47584	D	0.999465	.	.	.	.	.	.	T	0.48990	-0.8985	4	.	.	.	.	6.4908	0.22115	0.2761:0.1099:0.5103:0.1038	.	.	.	.	Q	308	.	.	R	-	2	0	KIF6	39621376	0.004000	0.15560	0.015000	0.15790	0.301000	0.27625	-1.882000	0.01624	-1.844000	0.01178	-2.773000	0.00119	CGG	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040455.2		-	ENST00000287152.7	Silent	SNP	6 : 39513398 - 39513398 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	509	66
KLK15	55554	broad.mit.edu	37	19	51330167	51330167	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:51330167C>G	ENST00000326856.4	-	4	574	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q|KLK15_ENST00000598239.1_Missense_Mutation_p.E150Q|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.E149Q	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	150	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTCCCAGGCTCGTTGTGGGAC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(140;10 2513 7143 9246)							NA				0													28	30	29			NA	NA	19		NA											NA				51330167		2202	4300	6502	SO:0001583	missense			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562	55554	55554		Kallikreins	20453	protein-coding gene	gene with protein product		610601	kallikrein 15		NA	11010966, 12439720, 16800724, 16800723	Standard	NM_017509	NM_017509	NA	Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000326856.4:c.445G>C	19.37:g.51330167C>G	ENSP00000314783:p.Glu149Gln	NA	A0AUY8|Q15358|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	37		.	.	.	.	.	.	.	.	.	.	c	9.453	1.091027	0.20471	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88741	-2.42	4.5	-5.03	0.02973	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.995620	0.02210	N	0.063038	T	0.81317	0.4797	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25719	0.132;0.003;0.002	B;B;B	0.34652	0.187;0.013;0.004	T	0.69060	-0.5245	10	0.15952	T	0.53	.	12.5901	0.56437	0.0:0.1856:0.0:0.8144	.	150;149;150	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	Q	150	ENSP00000301421:E150Q	ENSP00000301421:E150Q	E	-	1	0	KLK15	56021979	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.363000	0.07593	-0.801000	0.04427	0.555000	0.69702	GAG	KLK15-001	NOVEL	NAGNAG_splice_site|basic	protein_coding	NA	protein_coding	OTTHUMT00000465158.1		-	ENST00000326856.4	Missense_Mutation	SNP	19 : 51330167 - 51330167 G PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	367	79
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	154	16
KRT17	3872	broad.mit.edu	37	17	39780468	39780468	+	Silent	SNP	G	G	A	rs57674130		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:39780468G>A	ENST00000311208.8	-	1	361	c.294C>T	c.(292-294)taC>taT	p.Y98Y	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	98	Coil 1A.|Rod.		Missing (in PC2).|Y -> D (in PC2).	Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCTTGTCCAGGTAGGAGGCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(92;1242 2086 39193 50508)							NA				0													91	99	96			NA	NA	17		NA											NA				39780468		2203	4298	6501	SO:0001819	synonymous_variant			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422	3872	3872		-, Intermediate filaments type I, keratins (acidic)	6427	protein-coding gene	gene with protein product		148069		PCHC1	NA	7539673, 1281771, 16831889	Standard	NM_000422	NM_000422	NA	Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.294C>T	17.37:g.39780468G>A		NA	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	37	CCDS11402.1																																																																																			KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257460.1		-	ENST00000311208.8	Silent	SNP	17 : 39780468 - 39780468 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	970	6
LAX1	54900	broad.mit.edu	37	1	203739994	203739994	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:203739994C>T	ENST00000442561.2	+	2	518	c.128C>T	c.(127-129)gCg>gTg	p.A43V	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A27V	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	43					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.A43V(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGGGTTTGCGGGACTCCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											159	150	153			NA	NA	1		NA											NA				203739994		2203	4300	6503	SO:0001583	missense			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188	54900	54900			26005	protein-coding gene	gene with protein product	LAT-like membrane associated protein, linker for activation of x cells				NA	12359715	Standard	NM_017773	NM_017773	NA	Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.128C>T	1.37:g.203739994C>T	ENSP00000406970:p.Ala43Val	NA	Q6NSZ6|Q9NXB4	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	5.080	0.200425	0.09652	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.38	1.43	0.22495	.	0.327636	0.26007	N	0.026914	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B;B	0.33379	0.41;0.201	B;B	0.28139	0.086;0.055	T	0.18147	-1.0346	9	0.17832	T	0.49	-3.1747	7.1389	0.25543	0.0:0.6291:0.0:0.3709	.	27;43	B7Z744;Q8IWV1	.;LAX1_HUMAN	V	43;27	.	ENSP00000356186:A27V	A	+	2	0	LAX1	202006617	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.145000	0.16157	0.013000	0.14918	-0.254000	0.11334	GCG	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087468.3		+	ENST00000442561.2	Missense_Mutation	SNP	1 : 203739994 - 203739994 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	607	6
LMAN1L	79748	broad.mit.edu	37	15	75115914	75115914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:75115914G>A	ENST00000309664.5	+	12	1353	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R393H|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	405						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						GCAGCTGTCCGCATGGCTGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	15		NA											NA				75115914		2197	4296	6493	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.1214G>A	15.37:g.75115914G>A	ENSP00000310431:p.Arg405His	NA	Q6UWN2	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.673992	0.14841	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39406	1.11;1.08	5.18	-5.19	0.02832	.	1.400440	0.04515	N	0.383606	T	0.25158	0.0611	N	0.22421	0.69	0.25604	N	0.986564	B;B	0.14012	0.009;0.005	B;B	0.09377	0.004;0.002	T	0.18493	-1.0335	10	0.33940	T	0.23	.	6.2762	0.20981	0.2272:0.0:0.5161:0.2567	.	393;405	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	H	405;393	ENSP00000310431:R405H;ENSP00000369031:R393H	ENSP00000310431:R405H	R	+	2	0	LMAN1L	72902967	0.000000	0.05858	0.052000	0.19188	0.262000	0.26303	-0.908000	0.04063	-0.806000	0.04398	0.561000	0.74099	CGC	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286397.4		+	ENST00000309664.5	Missense_Mutation	SNP	15 : 75115914 - 75115914 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	373	5
MAX	4149	broad.mit.edu	37	14	65560458	65560458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:65560458G>A	ENST00000557746.1	-	2	289	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	MAX_ENST00000557277.1_5'UTR|RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000556443.1_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000246163.2_Missense_Mutation_p.R47W|MAX_ENST00000358402.4_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000555419.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R38W|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Missense_Mutation_p.R47W|MAX_ENST00000556979.1_Missense_Mutation_p.R47W|MAX_ENST00000284165.6_Missense_Mutation_p.R47W|MAX_ENST00000358664.4_Missense_Mutation_p.R47W			P61244	MAX_HUMAN	MYC associated factor X	47					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ACTGAGTCCCGCAAACTGTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	156	167			NA	NA	14		NA											NA				65560458		2203	4300	6503	SO:0001583	missense				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952	4149	4149		Basic helix-loop-helix proteins	6913	protein-coding gene	gene with protein product		154950	MAX protein		NA	1557420	Standard	NM_197957	NM_002382	NA	Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000557746.1:c.112C>T	14.37:g.65560458G>A	ENSP00000452197:p.Arg38Trp	NA	A8K265|A8K4G4|A8K824|P25912|P52163	37		.	.	.	.	.	.	.	.	.	.	G	24.2	4.499453	0.85069	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000284165;ENST00000358664;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.93	5.93	0.95920	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.997;0.998;0.999;0.998;0.999	D	0.98397	1.0566	10	0.87932	D	0	-5.0518	14.004	0.64451	0.0:0.0:0.8485:0.1515	.	47;47;38;38;47;47;47	Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;MAX_HUMAN;.;.	W	47;38;47;47;54;47;38;38;38;47	ENSP00000342482:R47W;ENSP00000351175:R38W;ENSP00000284165:R47W;ENSP00000351490:R47W;ENSP00000452378:R47W;ENSP00000452286:R38W;ENSP00000452197:R38W;ENSP00000450818:R38W;ENSP00000246163:R47W	ENSP00000246163:R47W	R	-	1	2	MAX	64630211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.132000	0.71676	2.814000	0.96858	0.563000	0.77884	CGG	MAX-013	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000414610.1		-	ENST00000557746.1	Missense_Mutation	SNP	14 : 65560458 - 65560458 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	356	5
MCHR1	2847	broad.mit.edu	37	22	41077637	41077637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:41077637G>A	ENST00000381433.2	+	3	769	c.596G>A	c.(595-597)cGc>cAc	p.R199H	MCHR1_ENST00000249016.4_Missense_Mutation_p.R325H|MCHR1_ENST00000498400.1_3'UTR			Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	325					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						AGGGTGACCCGCACAGCCATC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	74	79			NA	NA	22		NA											NA				41077637		2203	4300	6503	SO:0001583	missense				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285	2847	2847		GPCR / Class A : MCH receptors	4479	protein-coding gene	gene with protein product		601751	G protein-coupled receptor 24	GPR24	NA		Standard	NM_005297	XM_005261581	NA	Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000381433.2:c.596G>A	22.37:g.41077637G>A	ENSP00000370841:p.Arg199His	NA	B2RBX6|Q5R3J1|Q96S47|Q9BV08	37		.	.	.	.	.	.	.	.	.	.	G	26.5	4.747866	0.89663	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.40225	1.04;1.04	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.85630	2.765	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.73344	-0.4012	10	0.62326	D	0.03	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	325	Q99705	MCHR1_HUMAN	H	325;199	ENSP00000249016:R325H;ENSP00000370841:R199H	ENSP00000249016:R325H	R	+	2	0	MCHR1	39407583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.679000	0.74513	2.607000	0.88179	0.655000	0.94253	CGC	MCHR1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000317144.1		+	ENST00000381433.2	Missense_Mutation	SNP	22 : 41077637 - 41077637 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	393	6
MERTK	10461	broad.mit.edu	37	2	112785977	112785977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:112785977A>G	ENST00000295408.4	+	19	2793	c.2536A>G	c.(2536-2538)Acc>Gcc	p.T846A	MERTK_ENST00000421804.2_Missense_Mutation_p.T846A|MERTK_ENST00000409780.1_Missense_Mutation_p.T670A			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	846	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGACCGCCCCACCTTTTCAGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	71	68			NA	NA	2		NA											NA				112785977		2203	4300	6503	SO:0001583	missense			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208	10461	10461		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7027	protein-coding gene	gene with protein product		604705	c-mer proto-oncogene tyrosine kinase		NA	8086340, 10343112	Standard		XM_005263565	NA	Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2536A>G	2.37:g.112785977A>G	ENSP00000295408:p.Thr846Ala	NA	Q9HBB4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634279	0.29068	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.75	1.76	0.24704	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.494897	0.14911	U	0.291237	T	0.60932	0.2307	M	0.64676	1.99	0.18873	N	0.999985	B	0.20988	0.05	B	0.25614	0.062	T	0.55617	-0.8113	10	0.62326	D	0.03	-7.7489	6.9481	0.24530	0.4709:0.126:0.0:0.4031	.	846	Q12866	MERTK_HUMAN	A	846;846;505;670;170	ENSP00000295408:T846A;ENSP00000389152:T846A;ENSP00000387277:T670A;ENSP00000412660:T170A	ENSP00000295408:T846A	T	+	1	0	MERTK	112502448	0.001000	0.12720	0.045000	0.18777	0.584000	0.36387	0.722000	0.25925	0.040000	0.15660	0.533000	0.62120	ACC	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254046.2		+	ENST00000295408.4	Missense_Mutation	SNP	2 : 112785977 - 112785977 G PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	425	36
METTL21A	151194	broad.mit.edu	37	2	208461780	208461780	+	Nonstop_Mutation	SNP	T	T	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:208461780T>G	ENST00000432416.1	-	4	348				METTL21A_ENST00000425132.1_Intron|CREB1_ENST00000430624.1_Nonstop_Mutation_p.*328E|CREB1_ENST00000353267.3_Nonstop_Mutation_p.*328E|CREB1_ENST00000374397.4_Nonstop_Mutation_p.*231E|CREB1_ENST00000432329.2_Nonstop_Mutation_p.*342E|METTL21A_ENST00000458426.1_Intron			Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	NA						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CAAATCAGATTAATTTGGGAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	2		NA											NA				208461780		2203	4300	6503	SO:0001627	intron_variant			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401	151194	151194			30476	protein-coding gene	gene with protein product	Hepatocellular carcinoma-associated antigen 557b, heat shock protein 70kDa lysine (K) methyltransferase	615257	family with sequence similarity 119, member A	FAM119A	NA	23921388	Standard	NM_145280	NM_145280	NA	Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000432416.1:c.260-15110A>C	2.37:g.208461780T>G		NA	Q53RV0|Q8N1Z9|Q96GH6	37		.	.	.	.	.	.	.	.	.	.	T	16.02	3.004439	0.54254	.	.	ENSG00000118260	ENST00000430624;ENST00000236996;ENST00000432329;ENST00000353267;ENST00000374397	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6539	0.77118	0.0:0.0:0.0:1.0	.	.	.	.	E	328;52;342;328;231	.	.	X	+	1	0	CREB1	208170025	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.997000	0.88414	2.296000	0.77279	0.482000	0.46254	TAA	METTL21A-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000337043.1		-	ENST00000432416.1	Intron	SNP	2 : 208461780 - 208461780 G PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	261	66
MMP16	4325	broad.mit.edu	37	8	89198805	89198805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:89198805C>T	ENST00000286614.6	-	3	585	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	102					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCAGGTACACCGCATCGGGGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	149	155			NA	NA	8		NA											NA				89198805		2203	4300	6503	SO:0001583	missense			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103	4325	4325			7162	protein-coding gene	gene with protein product		602262	matrix metalloproteinase 16 (membrane-inserted), chromosome 8 open reading frame 57	C8orf57	NA	7559440	Standard	NM_005941	NM_005941	NA	Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.304G>A	8.37:g.89198805C>T	ENSP00000286614:p.Gly102Ser	NA	B2RAN7|Q14824|Q52H48	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102432	0.94245	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.65549	-0.16;-0.16	5.72	5.72	0.89469	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.985	T	0.79757	-0.1669	10	0.41790	T	0.15	.	19.8778	0.96885	0.0:1.0:0.0:0.0	.	102;102	P51512-2;P51512	.;MMP16_HUMAN	S	102;119	ENSP00000286614:G102S;ENSP00000429147:G119S	ENSP00000286614:G102S	G	-	1	0	MMP16	89267921	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.710000	0.92621	0.585000	0.79938	GGT	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375304.2		-	ENST00000286614.6	Missense_Mutation	SNP	8 : 89198805 - 89198805 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	915	55
MRPL15	29088	broad.mit.edu	37	8	55049226	55049226	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:55049226G>A	ENST00000260102.4	+	2	337		c.e2+1			NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	NA					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			AAGGACATAGGTAAGGTTGCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	72	71			NA	NA	8		NA											NA				55049226		2203	4300	6503	SO:0001630	splice_region_variant			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547	29088	29088		Mitochondrial ribosomal proteins / large subunits	14054	protein-coding gene	gene with protein product		611828			NA	11543634	Standard	NM_014175	NM_014175	NA	Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.263+1G>A	8.37:g.55049226G>A		NA	Q96Q54|Q9H0Y1	37	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645927	0.67358	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.05	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9287	0.70898	0.0:0.0:0.8558:0.1441	.	.	.	.	.	-1	.	.	.	+	.	.	MRPL15	55211779	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.855000	0.99526	1.326000	0.45319	-0.181000	0.13052	.	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378254.1	Intron	+	ENST00000260102.4	Splice_Site	SNP	8 : 55049226 - 55049226 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	552	87
MYH9	4627	broad.mit.edu	37	22	36712651	36712651	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:36712651G>A	ENST00000216181.5	-	12	1521	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	431	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGATGCGCAGCACCAGCCAG	0.607		NA	T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13.1	4627	myosin, heavy polypeptide 9, non-muscle	yes	L	0													74	71	72			NA	NA	22		NA											NA				36712651		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345	4627	4627		Myosins / Myosin superfamily : Class II	7579	protein-coding gene	gene with protein product	nonmuscle myosin heavy chain II-A	160775	myosin, heavy polypeptide 9, non-muscle	DFNA17	NA	1860190, 11023810	Standard	NM_002473	NM_002473	NA	Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1291C>T	22.37:g.36712651G>A		NA	O60805|Q86T83	37	CCDS13927.1																																																																																			MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259110.3		-	ENST00000216181.5	Silent	SNP	22 : 36712651 - 36712651 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	479	5
NACA	4666	broad.mit.edu	37	12	57108169	57108169	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:57108169G>A	ENST00000550952.1	-	7	2379	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	NACA_ENST00000548563.1_5'UTR|NACA_ENST00000454682.1_Missense_Mutation_p.R1934W|NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000546392.1_Missense_Mutation_p.R71W|NACA_ENST00000552540.1_Missense_Mutation_p.R71W|NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000551793.1_5'UTR			Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	71					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTCACTCCGACTCTGTTTT	0.388		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													137	122	127			NA	NA	12		NA											NA				57108169		2203	4299	6502	SO:0001583	missense			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	4666	4666			7629	protein-coding gene	gene with protein product		601234	nascent-polypeptide-associated complex alpha polypeptide		NA	8047162	Standard	NM_005594	NM_001113202	NA	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000550952.1:c.2341C>T	12.37:g.57108169G>A	ENSP00000448035:p.Arg781Trp	NA	Q3KQV4|Q53A18|Q53G46	37	CCDS44925.2	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611275	0.46631	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.67345	0.14;-0.1;-0.26;0.16;0.16;0.16;0.16;0.18;0.0;0.03	4.73	3.82	0.43975	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	H	0.95151	3.63	0.53688	D	0.999979	P;D;B	0.59767	0.946;0.986;0.008	P;P;B	0.57960	0.523;0.83;0.002	D	0.86446	0.1770	10	0.87932	D	0	.	11.0665	0.47979	0.0:0.0:0.663:0.337	.	1934;781;71	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	W	69;1934;781;71;71;71;71;71;67;71	ENSP00000448039:R69W;ENSP00000403817:R1934W;ENSP00000448035:R781W;ENSP00000349212:R71W;ENSP00000447821:R71W;ENSP00000377469:R71W;ENSP00000446801:R71W;ENSP00000447133:R71W;ENSP00000450383:R67W;ENSP00000447764:R71W	ENSP00000349212:R71W	R	-	1	2	NACA	55394436	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.742000	0.47434	0.938000	0.37419	0.460000	0.39030	CGG	NACA-004	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407275.1		-	ENST00000550952.1	Missense_Mutation	SNP	12 : 57108169 - 57108169 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	370	29
NBPF3	84224	broad.mit.edu	37	1	21801427	21801427	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:21801427A>G	ENST00000318220.6	+	11	1855	c.807A>G	c.(805-807)aaA>aaG	p.K269K	NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000318249.5_Silent_p.K325K|NBPF3_ENST00000454000.2_Silent_p.K255K			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	325	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAAAAAGGGCCAGTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	217	209			NA	NA	1		NA											NA				21801427		2203	4300	6503	SO:0001819	synonymous_variant			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794	84224	84224		neuroblastoma breakpoint family	25076	protein-coding gene	gene with protein product		612992			NA	11230166, 16079250	Standard	NM_032264	NM_032264	NA	Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318220.6:c.807A>G	1.37:g.21801427A>G		NA	A8K965|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	37																																																																																				NBPF3-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000008190.2		+	ENST00000318220.6	Silent	SNP	1 : 21801427 - 21801427 G PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	603	5
NELL1	4745	broad.mit.edu	37	11	20968881	20968881	+	Splice_Site	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:20968881G>T	ENST00000298925.5	+	12	1308		c.e12-1		NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000357134.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	NA					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTGGCTTCCAGGGTGGAGTTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	94	93			NA	NA	11		NA											NA				20968881		2203	4300	6503	SO:0001630	splice_region_variant			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973	4745	4745			7750	protein-coding gene	gene with protein product		602319	nel (chicken)-like 1		NA	8975702	Standard	NM_006157	NM_006157	NA	Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000298925.5:c.1156-1G>T	11.37:g.20968881G>T		NA	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.010372	0.75046	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20925457	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.847000	0.75404	2.941000	0.99782	0.655000	0.94253	.	NELL1-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000387587.1	Intron	+	ENST00000298925.5	Splice_Site	SNP	11 : 20968881 - 20968881 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	555	47
NEUROG3	50674	broad.mit.edu	37	10	71332359	71332359	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:71332359G>A	ENST00000242462.4	-	2	470	c.441C>T	c.(439-441)taC>taT	p.Y147Y		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	147					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GCTCCAGCGCGTACAAGCTGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	35	34			NA	NA	10		NA											NA				71332359		2203	4300	6503	SO:0001819	synonymous_variant			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859	50674	50674		Basic helix-loop-helix proteins	13806	protein-coding gene	gene with protein product		604882			NA	9000438, 10677506	Standard	NM_020999	NM_020999	NA	Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.441C>T	10.37:g.71332359G>A		NA	Q5VVI0|Q6DJX6|Q9BY24	37	CCDS31212.1																																																																																			NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048464.1		-	ENST00000242462.4	Silent	SNP	10 : 71332359 - 71332359 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	231	5
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000472647.1_Missense_Mutation_p.A195T|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											220	216	217			NA	NA	1		NA											NA				169256604		2203	4300	6503	SO:0001583	missense			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156	29922	29922			20461	protein-coding gene	gene with protein product	cilia and flagella associated protein 67	613465	non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)		NA	19852809	Standard	NM_013330	NM_197972	NA	Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.691G>A	1.37:g.169256604C>T	ENSP00000356785:p.Ala231Thr	NA	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083688.1		-	ENST00000367811.3	Missense_Mutation	SNP	1 : 169256604 - 169256604 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1117	7
NOC2L	26155	broad.mit.edu	37	1	889227	889227	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:889227G>A	ENST00000327044.6	-	8	872	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	275						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGATGTGCCGCAGCACGGCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405		0,1,2202	35	38	37		823	4.3	0.2	1		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOC2L	NM_015658.3	101	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	275/750	889227	2,13004	2203	4300	6503	SO:0001583	missense			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976	26155	26155			24517	protein-coding gene	gene with protein product	novel INHAT repressor, protein phosphatase 1, regulatory subunit 12	610770			NA		Standard	NM_015658	NM_015658	NA	Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.823C>T	1.37:g.889227G>A	ENSP00000317992:p.Arg275Trp	NA	Q5SVA3|Q9BTN6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460554	0.43736	2.27E-4	1.16E-4	ENSG00000188976	ENST00000327044	T	0.24723	1.84	4.28	4.28	0.50868	Armadillo-type fold (1);	0.410909	0.25238	N	0.032113	T	0.22589	0.0545	L	0.33485	1.01	0.25940	N	0.982882	B;B;B	0.18863	0.031;0.014;0.031	B;B;B	0.16722	0.016;0.006;0.016	T	0.19910	-1.0291	10	0.59425	D	0.04	-17.7383	15.865	0.79057	0.0:0.0:1.0:0.0	.	275;275;42	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	W	275	ENSP00000317992:R275W	ENSP00000317992:R275W	R	-	1	2	NOC2L	879090	0.995000	0.38212	0.201000	0.23476	0.059000	0.15707	3.798000	0.55522	2.217000	0.71921	0.305000	0.20034	CGG	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097869.1		-	ENST00000327044.6	Missense_Mutation	SNP	1 : 889227 - 889227 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	236	7
NOL4	8715	broad.mit.edu	37	18	31685089	31685089	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000589544.1_Silent_p.A150A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	163	167			NA	NA	18		NA											NA				31685089		2203	4299	6502	SO:0001819	synonymous_variant			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746	8715	8715			7870	protein-coding gene	gene with protein product	cancer/testis antigen 125	603577			NA	9813152	Standard	NM_003787	NM_003787	NA	Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.450G>A	18.37:g.31685089C>T		NA	Q6IBS2|Q9BWF1	37	CCDS11907.2																																																																																			NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255386.1		-	ENST00000261592.5	Silent	SNP	18 : 31685089 - 31685089 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	411	21
NOS1	4842	broad.mit.edu	37	12	117728173	117728173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:117728173C>T	ENST00000338101.4	-	3	915	c.911G>A	c.(910-912)cGc>cAc	p.R304H	NOS1_ENST00000344089.3_Missense_Mutation_p.A323T|NOS1_ENST00000317775.6_Missense_Mutation_p.R304H			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	304					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTGAGGAAGCGTGGACACTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(162;1748 2599 51982 52956)							NA				0													56	58	58			NA	NA	12		NA											NA				117728173		2051	4194	6245	SO:0001583	missense				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	4842	4842	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS	NA	1385308, 7682706	Standard		NM_001204213	NA	Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.911G>A	12.37:g.117728173C>T	ENSP00000337459:p.Arg304His	NA		37	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.454934|4.454934	0.84209|0.84209	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000344089|ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T|T;T	0.05786|0.01629	3.39|4.77;4.72	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Nitric oxide synthase, oxygenase domain (1);	.|0.109676	.|0.64402	.|D	.|0.000008	T|T	0.09774|0.09774	0.0240|0.0240	M|M	0.73598|0.73598	2.24|2.24	0.39371|0.39371	D|D	0.96609|0.96609	.|D	.|0.89917	.|1.0	.|P	.|0.62560	.|0.904	T|T	0.00728|0.00728	-1.1591|-1.1591	7|10	0.87932|0.66056	D|D	0|0.02	-33.7598|-33.7598	18.7669|18.7669	0.91876|0.91876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|304	.|P29475	.|NOS1_HUMAN	T|H	323|304	ENSP00000339862:A323T|ENSP00000320758:R304H;ENSP00000337459:R304H	ENSP00000339862:A323T|ENSP00000320758:R304H	A|R	-|-	1|2	0|0	NOS1|NOS1	116212556|116212556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.382000|7.382000	0.79729|0.79729	2.680000|2.680000	0.91292|0.91292	0.467000|0.467000	0.42956|0.42956	GCT|CGC	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268053.1		-	ENST00000338101.4	Missense_Mutation	SNP	12 : 117728173 - 117728173 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	274	45
NRP2	8828	broad.mit.edu	37	2	206628415	206628415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:206628415C>T	ENST00000360409.3	+	13	2853	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000412873.2_Missense_Mutation_p.R688W|NRP2_ENST00000272849.3_Missense_Mutation_p.R688W|NRP2_ENST00000357785.5_Missense_Mutation_p.R688W|NRP2_ENST00000540178.1_Missense_Mutation_p.R688W|NRP2_ENST00000357118.4_Missense_Mutation_p.R688W|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000540841.1_Missense_Mutation_p.R688W|AC007362.3_ENST00000423425.1_RNA	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	688	MAM.				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						GAATTTCTTGCGGCTGCAGAG	0.572		NA									OREG0015155	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													88	98	94			NA	NA	2		NA											NA				206628415		2201	4298	6499	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.2062C>T	2.37:g.206628415C>T	ENSP00000353582:p.Arg688Trp	2161	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579387	0.65878	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51;4.51;4.51	5.82	0.939	0.19506	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.502966	0.22269	N	0.062283	T	0.05686	0.0149	L	0.47716	1.5	0.80722	D	1	P;D;D;D;D	0.65815	0.746;0.97;0.995;0.988;0.98	B;B;P;P;P	0.52856	0.376;0.376;0.636;0.711;0.711	T	0.23511	-1.0186	10	0.72032	D	0.01	-11.5172	16.6493	0.85185	0.6569:0.3431:0.0:0.0	.	688;688;688;688;688	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	W	688	ENSP00000353582:R688W;ENSP00000439658:R688W;ENSP00000439261:R688W;ENSP00000349632:R688W;ENSP00000350432:R688W;ENSP00000407626:R688W;ENSP00000272849:R688W	ENSP00000272849:R688W	R	+	1	2	NRP2	206336660	0.989000	0.36119	0.998000	0.56505	0.927000	0.56198	-0.006000	0.12833	0.214000	0.20742	0.561000	0.74099	CGG	NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Missense_Mutation	SNP	2 : 206628415 - 206628415 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	681	5
OR10G9	219870	broad.mit.edu	37	11	123893818	123893818	+	Silent	SNP	C	C	T	rs145074505		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:123893818C>T	ENST00000375024.1	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTGGTTTACGTGCTCACTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	172	156	161		99	-4.4	0	11	dbSNP_134	161	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	OR10G9	NM_001001953.1		0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077		33/312	123893818	1,12999	2201	4299	6500	SO:0001819	synonymous_variant			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981	219870	219870		GPCR / Class A : Olfactory receptors	15129	protein-coding gene	gene with protein product				OR10G10P	NA		Standard	NM_001001953	NM_001001953	NA	Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.99C>T	11.37:g.123893818C>T		NA		37	CCDS31703.1																																																																																			OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387269.1		+	ENST00000375024.1	Silent	SNP	11 : 123893818 - 123893818 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1310	259
OR2AG2	338755	broad.mit.edu	37	11	6789727	6789727	+	Silent	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6789727C>A	ENST00000338569.2	-	1	559	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTATAGCAATCAGGGATGCCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	92	99			NA	NA	11		NA											NA				6789727		2201	4296	6497	SO:0001819	synonymous_variant			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124	338755	338755		GPCR / Class A : Olfactory receptors	15143	protein-coding gene	gene with protein product				OR2AG2P	NA		Standard	NM_001004490	NM_001004490	NA	Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.462G>T	11.37:g.6789727C>A		NA		37	CCDS31413.1																																																																																			OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386775.1		-	ENST00000338569.2	Silent	SNP	11 : 6789727 - 6789727 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	378	22
OR2Y1	134083	broad.mit.edu	37	5	180166493	180166493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180166493G>A	ENST00000307832.2	-	1	606	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTGTCCGCACAAGCCAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	70	74			NA	NA	5		NA											NA				180166493		2203	4300	6503	SO:0001583	missense			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339	134083	134083		GPCR / Class A : Olfactory receptors	14837	protein-coding gene	gene with protein product					NA		Standard	XM_068682	NM_001001657	NA	Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.566C>T	5.37:g.180166493G>A	ENSP00000312403:p.Ala189Val	NA	B9EIP1|Q6IFB1|Q96R16	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	0.125	-1.120816	0.01785	.	.	ENSG00000174339	ENST00000307832	T	0.00137	8.68	4.41	-8.81	0.00813	GPCR, rhodopsin-like superfamily (1);	2.447600	0.01860	N	0.036546	T	0.00039	0.0001	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45891	-0.9230	10	0.02654	T	1	.	1.5139	0.02502	0.3935:0.1488:0.3068:0.1509	.	189	Q8NGV0	OR2Y1_HUMAN	V	189	ENSP00000312403:A189V	ENSP00000312403:A189V	A	-	2	0	OR2Y1	180099099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.715000	0.01389	-1.294000	0.01345	GCG	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368059.2		-	ENST00000307832.2	Missense_Mutation	SNP	5 : 180166493 - 180166493 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	297	5
OR51A4	401666	broad.mit.edu	37	11	4967530	4967530	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:4967530C>T	ENST00000380373.2	-	1	826	c.801G>A	c.(799-801)cgG>cgA	p.R267R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	267			R -> G (in dbSNP:rs2595988).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGAGACATGCCGGGCAAAGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	167	169			NA	NA	11		NA											NA				4967530		2200	4298	6498	SO:0001819	synonymous_variant			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497	401666	401666		GPCR / Class A : Olfactory receptors	14795	protein-coding gene	gene with protein product					NA		Standard	NM_001005329	NM_001005329	NA	Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.801G>A	11.37:g.4967530C>T		NA		37	CCDS31367.1																																																																																			OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142821.1		-	ENST00000380373.2	Silent	SNP	11 : 4967530 - 4967530 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	835	6
PCDHA10	56139	broad.mit.edu	37	5	140236911	140236911	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140236911G>A	ENST00000307360.5	+	1	1278	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1			protocadherin alpha 10	NA										NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCGCGCGGGACGGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	103	104			NA	NA	5		NA											NA				140236911		2197	4274	6471	SO:0001819	synonymous_variant			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120	56139	56139		Cadherins / Protocadherins : Clustered	8664	other	complex locus constituent	KIAA0345-like 4, ortholog to mouse CNR8	606316		CNRS8	NA	10380929	Standard	NM_018901	NM_018901	NA	Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1278G>A	5.37:g.140236911G>A		NA		37	CCDS54921.1																																																																																			PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372895.2		+	ENST00000307360.5	Silent	SNP	5 : 140236911 - 140236911 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	994	227
PDZRN3	23024	broad.mit.edu	37	3	73434878	73434878	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73434878T>C	ENST00000479530.1	-	7	924	c.728A>G	c.(727-729)gAc>gGc	p.D243G	PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G|PDZRN3_ENST00000263666.4_Missense_Mutation_p.D526G|PDZRN3_ENST00000466348.1_5'UTR			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	526							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCCAGCATGTCCATGTGCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	159	176			NA	NA	3		NA											NA				73434878		2203	4300	6503	SO:0001583	missense			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.728A>G	3.37:g.73434878T>C	ENSP00000418624:p.Asp243Gly	NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.35|18.35	3.603678|3.603678	0.66445|0.66445	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.10477|.	2.87;3.59;3.48;3.48;3.59;3.58|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70029|0.70029	0.3177|0.3177	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;D;B;D|.	0.89917|.	0.004;1.0;0.005;0.999|.	B;D;B;D|.	0.87578|.	0.02;0.998;0.013;0.995|.	T|T	0.68625|0.68625	-0.5359|-0.5359	10|5	0.32370|.	T|.	0.25|.	.|.	15.4073|15.4073	0.74890|0.74890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	248;243;243;526|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	G|A	526;248;183;183;243;526;224|123	ENSP00000263666:D526G;ENSP00000442026:D248G;ENSP00000418168:D183G;ENSP00000418484:D183G;ENSP00000418624:D243G;ENSP00000419250:D224G|.	ENSP00000263666:D526G|.	D|T	-|-	2|1	0|0	PDZRN3|PDZRN3	73517568|73517568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.852000|7.852000	0.86927|0.86927	2.117000|2.117000	0.64856|0.64856	0.533000|0.533000	0.62120|0.62120	GAC|ACA	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Missense_Mutation	SNP	3 : 73434878 - 73434878 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	526	40
PDZRN3	23024	broad.mit.edu	37	3	73433515	73433515	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73433515G>A	ENST00000479530.1	-	8	1549	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	PDZRN3_ENST00000466780.1_Silent_p.D391D|PDZRN3_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000462146.2_Silent_p.D391D|PDZRN3_ENST00000263666.4_Silent_p.D734D			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	734	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCTGCGCACGTCGATGCTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	46	48			NA	NA	3		NA											NA				73433515		2203	4300	6503	SO:0001819	synonymous_variant			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.1353C>T	3.37:g.73433515G>A		NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37																																																																																				PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Silent	SNP	3 : 73433515 - 73433515 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	273	53
PIAS4	51588	broad.mit.edu	37	19	4033577	4033577	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:4033577G>A	ENST00000262971.2	+	9	1256	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	381					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.G381R(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCGACGGGTGAGCCCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											19	18	18			NA	NA	19		NA											NA				4033577		2199	4296	6495	SO:0001630	splice_region_variant			AF077952	CCDS12118.1	19p13.3	2011-10-11					51588	51588		Zinc fingers, MIZ-type	17002	protein-coding gene	gene with protein product	zinc finger, MIZ-type containing 6	605989			NA	9724754	Standard	NM_015897	NM_015897	NA	Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1142+1G>A	19.37:g.4033577G>A		NA	O75926|Q96G19|Q9UN16	37	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732488	0.69189	.	.	ENSG00000105229	ENST00000262971	T	0.15487	2.42	3.95	3.95	0.45737	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.000000	0.85682	U	0.000000	T	0.44871	0.1314	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54721	-0.8251	10	0.87932	D	0	-26.8132	14.9977	0.71446	0.0:0.0:1.0:0.0	.	381	Q8N2W9	PIAS4_HUMAN	R	381	ENSP00000262971:G381R	ENSP00000262971:G381R	G	+	1	0	PIAS4	3984577	1.000000	0.71417	0.801000	0.32222	0.314000	0.28054	9.755000	0.98912	1.762000	0.52044	0.491000	0.48974	GGG	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457496.1	Missense_Mutation	+	ENST00000262971.2	Splice_Site	SNP	19 : 4033577 - 4033577 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	88	11
POTEH	23784	broad.mit.edu	37	22	16279226	16279226	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:16279226C>A	ENST00000343518.6	-	4	1048	c.997G>T	c.(997-999)Gca>Tca	p.A333S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	333										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTAAATTTGCTTTTTTCTTG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062	23784	23784		POTE ankyrin domain containing, Ankyrin repeat domain containing	133	protein-coding gene	gene with protein product	cancer/testis antigen family 104, member 7	608913	actin, beta-like 1, ANKRD26-like family C, member 3	ACTBL1, A26C3	NA	10591208, 15276201, 21439273	Standard	NM_001136213	NM_001136213	NA	Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.997G>T	22.37:g.16279226C>A	ENSP00000340610:p.Ala333Ser	NA	A2CEK4|A6NCI1|A9Z1W0	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.059525	0.36373	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.61392	0.11	1.38	0.308	0.15815	Ankyrin repeat-containing domain (4);	0.217456	0.22410	U	0.060437	T	0.70116	0.3187	M	0.82823	2.61	0.09310	N	1	D;D	0.76494	0.976;0.999	D;D	0.87578	0.91;0.998	T	0.58306	-0.7659	10	0.72032	D	0.01	.	3.5736	0.07926	0.0:0.7344:0.0:0.2656	.	333;296	Q6S545;A6NKF6	POTEH_HUMAN;.	S	296;333	ENSP00000340610:A333S	ENSP00000340610:A333S	A	-	1	0	POTEH	14659226	0.302000	0.24454	0.001000	0.08648	0.061000	0.15899	1.944000	0.40263	0.148000	0.19059	0.175000	0.17021	GCA	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276918.4		-	ENST00000343518.6	Missense_Mutation	SNP	22 : 16279226 - 16279226 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	2459	34
PPRC1	23082	broad.mit.edu	37	10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCGAGGCCGCAACAGCCGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	69	71			NA	NA	10		NA											NA				103907023		2203	4298	6501	SO:0001583	missense			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840	23082	23082		RNA binding motif (RRM) containing	30025	protein-coding gene	gene with protein product			peroxisome proliferative activated receptor, gamma, coactivator-related 1		NA	9628581, 11340167	Standard	NM_015062	XM_005269656	NA	Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4274G>A	10.37:g.103907023G>A	ENSP00000278070:p.Arg1425His	NA	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149221	0.21288	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.37915	1.55;1.17	5.04	3.19	0.36642	.	0.407952	0.26903	N	0.021907	T	0.26011	0.0634	L	0.31926	0.97	0.80722	D	1	B;B	0.19817	0.039;0.023	B;B	0.17433	0.018;0.005	T	0.04454	-1.0950	10	0.21014	T	0.42	.	11.9659	0.53035	0.1434:0.0:0.8566:0.0	.	1305;1425	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1425;392	ENSP00000278070:R1425H;ENSP00000359029:R392H	ENSP00000278070:R1425H	R	+	2	0	PPRC1	103897013	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.955000	0.49121	0.805000	0.34159	-0.379000	0.06801	CGC	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050021.1		+	ENST00000278070.2	Missense_Mutation	SNP	10 : 103907023 - 103907023 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	509	6
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:116049072C>T	ENST00000374199.4	+	9	1297	c.896C>T	c.(895-897)gCg>gTg	p.A299V	PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													353	352	353			NA	NA	9		NA											NA				116049072		2203	4300	6503	SO:0001583	missense			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875	9128	9128		WD repeat domain containing	17349	protein-coding gene	gene with protein product	PRP4/STK/WD splicing factor, U4/U6 small nuclear ribonucleoprotein Prp4	607795	PRP4 pre-mRNA processing factor 4 homolog (yeast)		NA	9257651, 9404889	Standard	NM_004697	NM_004697	NA	Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374199.4:c.896C>T	9.37:g.116049072C>T	ENSP00000363315:p.Ala299Val	NA	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	37	CCDS59142.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG	PRPF4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053707.2		+	ENST00000374199.4	Missense_Mutation	SNP	9 : 116049072 - 116049072 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1785	10
PTPRD	5789	broad.mit.edu	37	9	8518207	8518207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:8518207G>A	ENST00000381196.4	-	18	1727	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V	PTPRD_ENST00000355233.5_Missense_Mutation_p.A395V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A395V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A385V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A385V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A382V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A395V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A395V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A392V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A392V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A382V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	395	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTATTGACAGCAACAACCCT	0.527		NA								TSP Lung(15;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	141	141			NA	NA	9		NA											NA				8518207		2203	4300	6503	SO:0001583	missense			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707	5789	5789		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9668	protein-coding gene	gene with protein product		601598			NA	7896816, 8355697	Standard		NM_002839	NA	Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1184C>T	9.37:g.8518207G>A	ENSP00000370593:p.Ala395Val	NA	B1ALA0	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814087	0.70912	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	H	0.96239	3.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.996;0.994;0.969;0.999;0.946	D	0.92021	0.5626	9	.	.	.	.	18.6464	0.91411	0.0:0.0:1.0:0.0	.	385;389;395;395;392;392;382;395;395	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	395;395;382;382;395;385;392;392;395;395;395;385	ENSP00000370593:A395V;ENSP00000348812:A395V;ENSP00000353187:A382V;ENSP00000351293:A382V;ENSP00000347373:A395V;ENSP00000380741:A385V;ENSP00000380735:A392V;ENSP00000440515:A392V;ENSP00000438164:A395V;ENSP00000417093:A395V;ENSP00000380731:A385V	.	A	-	2	0	PTPRD	8508207	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	9.807000	0.99171	2.392000	0.81423	0.460000	0.39030	GCT	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055395.3		-	ENST00000381196.4	Missense_Mutation	SNP	9 : 8518207 - 8518207 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	776	6
PTPRE	5791	broad.mit.edu	37	10	129871718	129871718	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:129871718G>T	ENST00000254667.3	+	17	1861	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	PTPRE_ENST00000419012.2_Missense_Mutation_p.V528L|PTPRE_ENST00000306042.5_Missense_Mutation_p.V470L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	528	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGACGGAGGTGCAGGAGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(52;977 1184 20575 41685)							NA				0													99	84	89			NA	NA	10		NA											NA				129871718		2203	4300	6503	SO:0001583	missense			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334	5791	5791		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9669	protein-coding gene	gene with protein product		600926			NA	8595895	Standard		NM_130435	NA	Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1582G>T	10.37:g.129871718G>T	ENSP00000254667:p.Val528Leu	NA	Q13345|Q5VWH3|Q96KQ6	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649108	0.03506	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.09538	2.97;2.97;2.97	4.75	2.82	0.32997	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.089012	0.46758	D	0.000262	T	0.01489	0.0048	N	0.00047	-2.435	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.42137	-0.9469	10	0.02654	T	1	.	8.7131	0.34395	0.0777:0.286:0.6363:0.0	.	506;528;470;528	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	L	528;506;528;470	ENSP00000254667:V528L;ENSP00000402337:V528L;ENSP00000303350:V470L	ENSP00000254667:V528L	V	+	1	0	PTPRE	129761708	1.000000	0.71417	0.989000	0.46669	0.609000	0.37215	2.058000	0.41374	0.557000	0.29117	0.563000	0.77884	GTG	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050990.1		+	ENST00000254667.3	Missense_Mutation	SNP	10 : 129871718 - 129871718 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	207	39
PTPRF	5792	broad.mit.edu	37	1	44069169	44069169	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44069169G>A	ENST00000359947.4	+	15	2763	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R799H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	808	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGGTGCCCGCAGCAAGCCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	1		NA											NA				44069169		2203	4300	6503	SO:0001583	missense			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2423G>A	1.37:g.44069169G>A	ENSP00000353030:p.Arg808His	NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.895738|3.895738	0.72639|0.72639	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.54279	.|2.28;0.58;2.28;0.58;0.58;0.59	4.79|4.79	4.79|4.79	0.61399|0.61399	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.31660	.|N	.|0.007279	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D	.|0.89917	.|1.0;1.0;0.88;1.0;1.0	.|D;D;B;D;D	.|0.97110	.|0.999;0.986;0.288;0.995;1.0	T|T	0.73007|0.73007	-0.4118|-0.4118	5|10	.|0.30854	.|T	.|0.27	.|.	18.2203|18.2203	0.89899|0.89899	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|455;156;567;799;808	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	456|808;799;808;799;156;62	.|ENSP00000353030:R808H;ENSP00000398822:R799H;ENSP00000361491:R808H;ENSP00000361490:R799H;ENSP00000387885:R156H;ENSP00000361484:R62H	.|ENSP00000353030:R808H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43841756|43841756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.456000|7.456000	0.80751|0.80751	2.387000|2.387000	0.81309|0.81309	0.655000|0.655000	0.94253|0.94253	GCA|CGC	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Missense_Mutation	SNP	1 : 44069169 - 44069169 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	449	6
RAD54B	25788	broad.mit.edu	37	8	95419794	95419794	+	Silent	SNP	C	C	T	rs113276250	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:95419794C>T	ENST00000336148.5	-	5	778	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GAGAAGAATGCGAGATAGCAG	0.398		NA						Direct reversal of damage;Homologous recombination					C	5	0.0023	0.01	0.01	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0023	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	,	34,4372	39.2+/-71.8	0,34,2169	111	110	110		102,654	2.6	0	8	dbSNP_132	110	1,8599		0,1,4299	yes	coding-synonymous,coding-synonymous	RAD54B	NM_001205263.1,NM_012415.3	,	0,35,6468	TT,TC,CC	NA	0.0116,0.7717,0.2691	,	34/727,218/911	95419794	35,12971	2203	4300	6503	SO:0001819	synonymous_variant			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275	25788	25788			17228	protein-coding gene	gene with protein product		604289			NA	10362364, 10851248	Standard	NM_012415	NM_012415	NA	Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.654G>A	8.37:g.95419794C>T		NA	Q8N4S5	37	CCDS6262.1																																																																																			RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257806.3		-	ENST00000336148.5	Silent	SNP	8 : 95419794 - 95419794 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	469	5
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	2		NA											NA				109371498		2198	4282	6480	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109371498 - 109371498 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	951	9
RAVER1	125950	broad.mit.edu	37	19	10428271	10428271	+	Silent	SNP	T	T	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:10428271T>A	ENST00000293677.6	-	13	2211	c.2130A>T	c.(2128-2130)ccA>ccT	p.P710P	CTD-2369P2.12_ENST00000586529.1_Silent_p.P111P	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	537						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCCGCCCAGTGGGGTCTGGA	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	19		NA											NA				10428271		1891	4078	5969	SO:0001819	synonymous_variant				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847	125950	125950		RNA binding motif (RRM) containing	30296	protein-coding gene	gene with protein product		609950			NA	11853319, 11724819	Standard	NM_133452	NM_133452	NA	Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.2130A>T	19.37:g.10428271T>A		NA	A6NMU4|Q8IY60|Q8TF24	37	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901402	0.33535	.	.	ENSG00000161847	ENST00000331131	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09250	-1.0683	7	0.59425	D	0.04	-4.598	6.2772	0.20987	0.0844:0.2019:0.505:0.2088	.	567	Q8IY67	RAVR1_HUMAN	L	567	.	ENSP00000327543:H567L	H	-	2	0	RAVER1	10289271	0.052000	0.20516	0.853000	0.33588	0.985000	0.73830	-1.405000	0.02492	-1.698000	0.01418	0.459000	0.35465	CAC	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451227.1		-	ENST00000293677.6	Silent	SNP	19 : 10428271 - 10428271 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	125	29
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	1237	9
RGS20	8601	broad.mit.edu	37	8	54793583	54793583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:54793583C>T	ENST00000276500.4	+	1	130	c.8C>T	c.(7-9)aCg>aTg	p.T3M	RGS20_ENST00000344277.6_Intron|RGS20_ENST00000297313.3_Intron|RGS20_ENST00000522225.1_5'UTR	NM_003702.3	NP_003693.2	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	0					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CGCATGCGCACGGCGGACGGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	10	9			NA	NA	8		NA											NA				54793583		1925	3953	5878	SO:0001583	missense			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509	8601	8601		Regulators of G-protein signaling	14600	protein-coding gene	gene with protein product		607193	regulator of G-protein signalling 20		NA	9748279, 9748280	Standard		NM_003702	NA	Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000276500.4:c.8C>T	8.37:g.54793583C>T	ENSP00000276500:p.Thr3Met	NA	Q96BG9	37	CCDS6156.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835896	0.50951	.	.	ENSG00000147509	ENST00000276500	T	0.39229	1.09	3.61	1.8	0.24995	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.19300	N	0.999972	B	0.32893	0.389	B	0.21546	0.035	T	0.20672	-1.0268	8	0.87932	D	0	.	3.9867	0.09519	0.0:0.5796:0.1979:0.2225	.	3	O76081-6	.	M	3	ENSP00000276500:T3M	ENSP00000276500:T3M	T	+	2	0	RGS20	54956136	0.435000	0.25577	0.989000	0.46669	0.511000	0.34104	0.403000	0.20982	0.514000	0.28300	-0.291000	0.09656	ACG	RGS20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380060.1		+	ENST00000276500.4	Missense_Mutation	SNP	8 : 54793583 - 54793583 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	148	27
RIN2	54453	broad.mit.edu	37	20	19970910	19970910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:19970910C>A	ENST00000255006.6	+	9	2319	c.2170C>A	c.(2170-2172)Ctg>Atg	p.L724M	RIN2_ENST00000440354.2_Missense_Mutation_p.L242M|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	675	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CATGCTGCTGCTGCGGGTCTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	20		NA											NA				19970910		2065	4206	6271	SO:0001583	missense			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669	54453	54453			18750	protein-coding gene	gene with protein product		610222			NA	11733506, 1849280, 16423831	Standard		NM_018993	NA	Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2170C>A	20.37:g.19970910C>A	ENSP00000255006:p.Leu724Met	NA	Q00425|Q5TFT8|Q9BQL3|Q9H071	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845521	0.71603	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.36699	1.24;1.24	5.83	2.72	0.32119	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.88704	2.975	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64554	-0.6380	9	.	.	.	-20.4278	10.7252	0.46064	0.0:0.7838:0.0:0.2162	.	242;675	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	M	724;242	ENSP00000255006:L724M;ENSP00000391239:L242M	.	L	+	1	2	RIN2	19918910	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.382000	0.34374	0.313000	0.23062	-0.194000	0.12790	CTG	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078212.1		+	ENST00000255006.6	Missense_Mutation	SNP	20 : 19970910 - 19970910 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	165	18
RPL10L	140801	broad.mit.edu	37	14	47120810	47120810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:47120810C>A	ENST00000298283.3	-	1	218	c.130G>T	c.(130-132)Gat>Tat	p.D44Y		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	44					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGGAACTCATCCACTTTTGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	102	101			NA	NA	14		NA											NA				47120810		2203	4300	6503	SO:0001583	missense			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496	140801	140801		L ribosomal proteins	17976	protein-coding gene	gene with protein product					NA	19123937	Standard		NM_080746	NA	Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.130G>T	14.37:g.47120810C>A	ENSP00000298283:p.Asp44Tyr	NA	Q8IUD1	37	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777196	0.70107	.	.	ENSG00000165496	ENST00000298283	T	0.74209	-0.82	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.98629	4.285	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.94002	0.7276	10	0.87932	D	0	-39.9655	15.1202	0.72438	0.0:1.0:0.0:0.0	.	44	Q96L21	RL10L_HUMAN	Y	44	ENSP00000298283:D44Y	ENSP00000298283:D44Y	D	-	1	0	RPL10L	46190560	1.000000	0.71417	0.997000	0.53966	0.495000	0.33615	7.003000	0.76310	2.688000	0.91661	0.655000	0.94253	GAT	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349819.1		-	ENST00000298283.3	Missense_Mutation	SNP	14 : 47120810 - 47120810 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	638	104
RYR3	6263	broad.mit.edu	37	15	33822869	33822869	+	Splice_Site	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:33822869T>C	ENST00000389232.4	+	4	424		c.e4+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	NA					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCGGAATGGTAAGCAGCTCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	15		NA											NA				33822869		1954	4152	6106	SO:0001630	splice_region_variant				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.354+2T>C	15.37:g.33822869T>C		NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703043	0.88924	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0668	0.72002	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31610161	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.637000	0.83313	2.191000	0.70037	0.533000	0.62120	.	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1	Intron	+	ENST00000389232.4	Splice_Site	SNP	15 : 33822869 - 33822869 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	150	6
SBNO2	22904	broad.mit.edu	37	19	1119153	1119153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1119153C>T	ENST00000587024.1	-	14	1594	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T|SBNO2_ENST00000361757.3_Missense_Mutation_p.A462T			Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	462					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCCATGGCGCCAACGCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA	0,4382		0,0,2191	28	33	32		1213,1384	4.2	1	19		32	1,8557		0,1,4278	no	missense,missense	SBNO2	NM_001100122.1,NM_014963.2	58,58	0,1,6469	TT,TC,CC	NA	0.0117,0.0,0.0077	probably-damaging,probably-damaging	405/1310,462/1367	1119153	1,12939	2191	4279	6470	SO:0001583	missense			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932	22904	22904			29158	protein-coding gene	gene with protein product		615729	KIAA0963	KIAA0963	NA	10231032	Standard	NM_014963	NM_014963	NA	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.1384G>A	19.37:g.1119153C>T	ENSP00000468520:p.Ala462Thr	NA	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.368391	0.82463	0.0	1.17E-4	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.993	D	0.89565	0.3809	9	0.87932	D	0	-24.553	15.6769	0.77336	0.0:1.0:0.0:0.0	.	462;462;405	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	T	462;405;486	.	ENSP00000250872:A486T	A	-	1	0	SBNO2	1070153	1.000000	0.71417	0.986000	0.45419	0.416000	0.31233	7.514000	0.81750	2.160000	0.67779	0.462000	0.41574	GCC	SBNO2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458060.1		-	ENST00000587024.1	Missense_Mutation	SNP	19 : 1119153 - 1119153 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	67	9
SCN2A	6326	broad.mit.edu	37	2	166245632	166245632	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166245632C>T	ENST00000375437.2	+	27	5606	c.5316C>T	c.(5314-5316)atC>atT	p.I1772I	SCN2A_ENST00000375427.2_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I|SCN2A_ENST00000357398.3_Silent_p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1772					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACATGTACATCGCGGTCATCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	102	101			NA	NA	2		NA											NA				166245632		2202	4281	6483	SO:0001819	synonymous_variant			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	6326	6326		Sodium channels, Voltage-gated ion channels / Sodium channels	10588	protein-coding gene	gene with protein product		182390	sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide	SCN2A1, SCN2A2	NA	1317301, 16382098	Standard	NM_021007	XM_005246753	NA	Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5316C>T	2.37:g.166245632C>T		NA	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	37	CCDS33314.1																																																																																			SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102659.2		+	ENST00000375437.2	Silent	SNP	2 : 166245632 - 166245632 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	733	137
SCN3A	6328	broad.mit.edu	37	2	166018859	166018859	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166018859C>T	ENST00000283254.7	-	9	1457	c.990G>A	c.(988-990)ggG>ggA	p.G330G	SCN3A_ENST00000360093.3_Silent_p.G330G|SCN3A_ENST00000409101.3_Silent_p.G330G	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	330						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)	GGTCTTTTTGCCCATCCAAAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	103	97			NA	NA	2		NA											NA				166018859		2201	4299	6500	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.990G>A	2.37:g.166018859C>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 : 166018859 - 166018859 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	809	6
SETD6	79918	broad.mit.edu	37	16	58550831	58550831	+	Splice_Site	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:58550831C>T	ENST00000394266.4	+	6	640	c.584C>T	c.(583-585)gCg>gTg	p.A195V	SETD6_ENST00000219315.4_Splice_Site_p.A264V|SETD6_ENST00000310682.2_Splice_Site_p.A240V|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	264	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAATACTCTGCGGTGAGTGGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	180	180			NA	NA	16		NA											NA				58550831		2198	4300	6498	SO:0001630	splice_region_variant			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037	79918	79918			26116	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024860	NM_024860	NA	Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000394266.4:c.585+1C>T	16.37:g.58550831C>T		NA	A8K380|B5ME38|Q9H787	37		.	.	.	.	.	.	.	.	.	.	C	17.07	3.295317	0.60086	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.14022	2.54;2.54;2.54	5.42	4.46	0.54185	SET domain (2);	0.231004	0.44097	D	0.000482	T	0.11965	0.0291	L	0.48642	1.525	0.36533	D	0.870835	P;P;P	0.42039	0.563;0.769;0.558	B;B;B	0.32724	0.039;0.151;0.023	T	0.17137	-1.0379	10	0.35671	T	0.21	-2.8694	14.3423	0.66636	0.1576:0.8424:0.0:0.0	.	240;264;240	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	V	240;195;264	ENSP00000310082:A240V;ENSP00000377809:A195V;ENSP00000219315:A264V	ENSP00000219315:A264V	A	+	2	0	SETD6	57108332	0.966000	0.33281	0.999000	0.59377	0.365000	0.29674	2.801000	0.47908	1.237000	0.43756	0.491000	0.48974	GCG	SETD6-006	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000317277.2	Missense_Mutation	+	ENST00000394266.4	Splice_Site	SNP	16 : 58550831 - 58550831 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	642	5
SFXN4	119559	broad.mit.edu	37	10	120905815	120905815	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:120905815G>C	ENST00000355697.2	-	13	888	c.869C>G	c.(868-870)tCt>tGt	p.S290C	SFXN4_ENST00000330036.6_Missense_Mutation_p.S281C|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	290					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GACAGTACAAGACAGTTTCAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	144	148			NA	NA	10		NA											NA				120905815		2203	4300	6503	SO:0001583	missense				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605	119559	119559		Sideroflexins	16088	protein-coding gene	gene with protein product		615564			NA	14756423	Standard	XM_058406	NM_213649	NA	Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.869C>G	10.37:g.120905815G>C	ENSP00000347924:p.Ser290Cys	NA	Q6WSU4|Q86TD9	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123757	0.37436	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T	0.30182	1.54;1.54	5.07	2.86	0.33363	.	0.835144	0.10718	N	0.642040	T	0.36331	0.0963	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	P	0.56788	0.806	T	0.21724	-1.0237	10	0.38643	T	0.18	-13.2476	2.1131	0.03708	0.1085:0.1772:0.4529:0.2614	.	290	Q6P4A7	SFXN4_HUMAN	C	290;281;173;174	ENSP00000347924:S290C;ENSP00000333200:S281C	ENSP00000333200:S281C	S	-	2	0	SFXN4	120895805	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	1.193000	0.32162	1.240000	0.43803	0.650000	0.86243	TCT	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050642.3		-	ENST00000355697.2	Missense_Mutation	SNP	10 : 120905815 - 120905815 C PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	616	102
SH3PXD2A	9644	broad.mit.edu	37	10	105363099	105363099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	626					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCATATGGCCGGAAGCCCTCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	85	83			NA	NA	10		NA											NA				105363099		2203	4300	6503	SO:0001583	missense			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957	9644	9644			23664	protein-coding gene	gene with protein product	five SH3 domains		SH3 multiple domains 1	SH3MD1	NA	9687503	Standard	NM_014631	XM_005270297	NA	Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1876C>T	10.37:g.105363099G>A	ENSP00000358789:p.Arg626Trp	NA	D3DR98|O43302|Q5TCZ2|Q5TDQ8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.990608|2.990608	0.54041|0.54041	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.65916	.|-0.09;-0.18;0.02;-0.18	5.42|5.42	2.32|2.32	0.28847|0.28847	.|.	.|0.137701	.|0.64402	.|D	.|0.000007	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D	.|0.76494	.|0.998;0.998;0.998;0.999	.|P;P;P;D	.|0.65443	.|0.863;0.863;0.863;0.935	T|T	0.74287|0.74287	-0.3714|-0.3714	5|10	.|0.72032	.|D	.|0.01	-25.2151|-25.2151	15.2853|15.2853	0.73822|0.73822	0.0:0.0:0.3321:0.6679|0.0:0.0:0.3321:0.6679	.|.	.|626;475;471;598	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	L|W	552|626;598;433;541;493;461	.|ENSP00000358789:R626W;ENSP00000348215:R598W;ENSP00000443663:R493W;ENSP00000441514:R461W	.|ENSP00000318135:R433W	P|R	-|-	2|1	0|2	SH3PXD2A|SH3PXD2A	105353089|105353089	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	1.336000|1.336000	0.33850|0.33850	0.168000|0.168000	0.19655|0.19655	0.561000|0.561000	0.74099|0.74099	CCG|CGG	SH3PXD2A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050178.1		-	ENST00000369774.4	Missense_Mutation	SNP	10 : 105363099 - 105363099 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	854	5
SLC12A7	10723	broad.mit.edu	37	5	1083957	1083957	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1083957G>A	ENST00000264930.5	-	8	1075	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	344					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCTGGGAGCCGTTGCAGAAGA	0.647		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	5		NA											NA				1083957		2200	4300	6500	SO:0001819	synonymous_variant			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	10723	10723		Solute carriers	10915	protein-coding gene	gene with protein product		604879			NA	10347194	Standard	NM_006598	NM_006598	NA	Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1032C>T	5.37:g.1083957G>A		NA	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	37	CCDS34129.1																																																																																			SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366446.2		-	ENST00000264930.5	Silent	SNP	5 : 1083957 - 1083957 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	465	5
SLC1A5	6510	broad.mit.edu	37	19	47278927	47278927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:47278927G>A	ENST00000542575.2	-	8	2094	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000412532.2_Missense_Mutation_p.T261M|SLC1A5_ENST00000434726.2_Missense_Mutation_p.T287M|SLC1A5_ENST00000594991.1_Missense_Mutation_p.T313M	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	489					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCTCGACTCCGTACGGTCCAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	110	115			NA	NA	19		NA											NA				47278927		2203	4300	6503	SO:0001583	missense			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281	6510	6510		Solute carriers	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1	NA	8702519, 10051606	Standard		NM_005628	NA	Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1466C>T	19.37:g.47278927G>A	ENSP00000444408:p.Thr489Met	NA	A8K9H5|D0EYG6|O95720|Q96RL9|Q9BWQ3|Q9UNP2	37	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461996	0.43736	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.65549	0.64;-0.16;-0.15	4.88	1.33	0.21861	.	1.752340	0.02522	N	0.092658	T	0.60881	0.2303	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51057	0.888;0.941;0.941	B;P;P	0.52514	0.405;0.701;0.701	T	0.53927	-0.8369	10	0.72032	D	0.01	-24.3981	7.7884	0.29106	0.079:0.0:0.6355:0.2855	.	287;489;489	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	M	489;287;261;496	ENSP00000444408:T489M;ENSP00000406532:T287M;ENSP00000397924:T261M	ENSP00000303623:T496M	T	-	2	0	SLC1A5	51970767	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.384000	0.20668	0.640000	0.30582	0.550000	0.68814	ACG	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466630.1		-	ENST00000542575.2	Missense_Mutation	SNP	19 : 47278927 - 47278927 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	983	6
SLC25A52	147407	broad.mit.edu	37	18	29340508	29340508	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:29340508A>G	ENST00000269205.5	-	1	335	c.147T>C	c.(145-147)tgT>tgC	p.C49C	SLC25A52_ENST00000579441.2_Silent_p.C39C	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	39					transport	integral to membrane|mitochondrial inner membrane					NA						TGAAGGCTGCACAGCAGCCAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	94	95			NA	NA	18		NA											NA				29340508		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437	147407	147407		Solute carriers	23324	protein-coding gene	gene with protein product			mitochondrial carrier triple repeat 2	MCART2	NA		Standard	XM_084000	NM_001034172	NA	Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000269205.5:c.147T>C	18.37:g.29340508A>G		NA		37	CCDS32812.2																																																																																			SLC25A52-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447377.2		-	ENST00000269205.5	Silent	SNP	18 : 29340508 - 29340508 G PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	557	5
SLC6A18	348932	broad.mit.edu	37	5	1246093	1246093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1246093G>A	ENST00000324642.3	+	12	1910	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	596					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCGGAGGCGGACGTGGAGG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	5		NA											NA				1246093		2196	4279	6475	SO:0001583	missense			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363	348932	348932		Solute carriers	26441	protein-coding gene	gene with protein product		610300	solute carrier family 6 (neurotransmitter transporter), member 18, solute carrier family 6, member 18		NA	19478081	Standard	NM_182632	NM_182632	NA	Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1787G>A	5.37:g.1246093G>A	ENSP00000323549:p.Arg596Gln	NA		37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599235	0.13939	.	.	ENSG00000164363	ENST00000324642	T	0.74002	-0.8	4.41	0.824	0.18818	.	6.616820	0.01082	N	0.005003	T	0.53077	0.1774	N	0.08118	0	0.09310	N	0.999999	B	0.21147	0.052	B	0.06405	0.002	T	0.41592	-0.9500	10	0.12766	T	0.61	.	6.3418	0.21327	0.4495:0.0:0.5505:0.0	.	596	Q96N87	S6A18_HUMAN	Q	596	ENSP00000323549:R596Q	ENSP00000323549:R596Q	R	+	2	0	SLC6A18	1299093	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.408000	0.02485	-0.179000	0.10654	0.305000	0.20034	CGG	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206728.3		+	ENST00000324642.3	Missense_Mutation	SNP	5 : 1246093 - 1246093 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	162	9
SOS2	6655	broad.mit.edu	37	14	50626630	50626630	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:50626630C>T	ENST00000543680.1	-	9	1297	c.1272G>A	c.(1270-1272)cgG>cgA	p.R424R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000216373.5_Silent_p.R457R			Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	457					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAAAAATATGCCGTTCATGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	176	179			NA	NA	14		NA											NA				50626630		2203	4300	6503	SO:0001819	synonymous_variant			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485	6655	6655		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11188	protein-coding gene	gene with protein product		601247	son of sevenless (Drosophilia) homolog 2		NA	8276400	Standard		NM_006939	NA	Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000543680.1:c.1272G>A	14.37:g.50626630C>T		NA	D3DSB4|Q15503|Q17RN1	37																																																																																				SOS2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410706.1		-	ENST00000543680.1	Silent	SNP	14 : 50626630 - 50626630 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	948	7
SPHKAP	80309	broad.mit.edu	37	2	228996774	228996774	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:228996774G>A	ENST00000392056.3	-	2	106	c.60C>T	c.(58-60)gaC>gaT	p.D20D	SPHKAP_ENST00000344657.5_Silent_p.D20D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	20						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTCCAAAACGTCATACATCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	91			NA	NA	2		NA											NA				228996774		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.60C>T	2.37:g.228996774G>A		NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1																																																																																			SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Silent	SNP	2 : 228996774 - 228996774 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	506	65
STK11	6794	broad.mit.edu	37	19	1207204	1207204	+	Splice_Site	DEL	T	T	-	rs112235354		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1207204delT	ENST00000326873.7	+	1	1463		c.e1+2		STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	NA					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGAAGAAGTAAGTATGGCT	0.597		14	D, Mis, N, F, S		NSCLC, pancreatic	jejunal harmartoma, ovarian, testicular, pancreatic			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		E, M, O	23	Whole gene deletion(20)|Unknown(3)	cervix(15)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											20	22	22			NA	NA	19		NA											NA				1207204		1975	4132	6107	SO:0001630	splice_region_variant	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046	6794	6794			11389	protein-coding gene	gene with protein product	polarization-related protein LKB1	602216	serine/threonine kinase 11 (Peutz-Jeghers syndrome)		NA	9425897	Standard	NM_000455	XM_005259617	NA	Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.290+2T>-	19.37:g.1207204delT		NA	B2RBX7|E7EW76	37	CCDS45896.1																																																																																			STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449839.3	Intron	+	ENST00000326873.7	Splice_Site	DEL	19 : 1207204 - 1207204 - PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	71	15
SUPT3H	8464	broad.mit.edu	37	6	44929553	44929553	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:44929553G>T	ENST00000371460.1	-	9	867	c.550C>A	c.(550-552)Caa>Aaa	p.Q184K	SUPT3H_ENST00000371461.2_Missense_Mutation_p.Q184K|SUPT3H_ENST00000306867.5_Missense_Mutation_p.Q173K|SUPT3H_ENST00000371459.1_Missense_Mutation_p.Q173K	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	255					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATTCGAGTTTGTCTTTCTGCT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	73			NA	NA	6		NA											NA				44929553		2202	4293	6495	SO:0001583	missense			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284	8464	8464			11466	protein-coding gene	gene with protein product		602947	suppressor of Ty (S.cerevisiae) 3 homolog		NA	9674425, 9726987	Standard	NM_181356	NM_003599	NA	Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371460.1:c.550C>A	6.37:g.44929553G>T	ENSP00000360515:p.Gln184Lys	NA	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	37	CCDS34466.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344276	0.41498	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.42900	0.96;0.98;0.98;0.96	5.69	5.69	0.88448	.	0.269901	0.43260	D	0.000594	T	0.48642	0.1511	L	0.45581	1.43	0.53005	D	0.999967	B;D	0.54964	0.169;0.969	B;D	0.64877	0.075;0.93	T	0.15407	-1.0438	10	0.26408	T	0.33	.	19.8205	0.96591	0.0:0.0:1.0:0.0	.	184;255	O75486-3;O75486	.;SUPT3_HUMAN	K	184;173;173;184	ENSP00000360515:Q184K;ENSP00000360514:Q173K;ENSP00000306718:Q173K;ENSP00000360516:Q184K	ENSP00000306718:Q173K	Q	-	1	0	SUPT3H	45037531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.017000	0.70805	2.670000	0.90874	0.585000	0.79938	CAA	SUPT3H-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106910.3		-	ENST00000371460.1	Missense_Mutation	SNP	6 : 44929553 - 44929553 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	433	23
SUSD4	55061	broad.mit.edu	37	1	223465929	223465929	+	Silent	SNP	G	G	A	rs148470082		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:223465929G>A	ENST00000343846.3	-	2	846	c.213C>T	c.(211-213)agC>agT	p.S71S	SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.S71S|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.S71S|SUSD4_ENST00000366878.4_Silent_p.S71S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	71	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAACCCCTCCGCTGGGGGTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	63	73	70		213,213	-6.6	0	1	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SUSD4	NM_001037175.2,NM_017982.3	,	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	,	71/291,71/491	223465929	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502	55061	55061			25470	protein-coding gene	gene with protein product		615827			NA	12477932	Standard	NM_017982	NM_017982	NA	Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.213C>T	1.37:g.223465929G>A		NA	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	37	CCDS41471.1																																																																																			SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092592.2		-	ENST00000343846.3	Silent	SNP	1 : 223465929 - 223465929 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	555	44
TARBP2	6895	broad.mit.edu	37	12	53898955	53898955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:53898955C>T	ENST00000552857.1	+	4	475				TARBP2_ENST00000266987.2_Missense_Mutation_p.A217V|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V			Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	NA					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AAGCGGAATGCGGCGGCCAAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	12		NA											NA				53898955		2203	4300	6503	SO:0001627	intron_variant				CCDS8861.1, CCDS41791.1	12q13.13	2013-09-20	2007-06-26		ENSG00000139546	ENSG00000139546	6895	6895			11569	protein-coding gene	gene with protein product		605053	Tar (HIV-1) RNA binding protein 2		NA	2011739	Standard		NM_134323	NA	Approved		uc001sdt.3	Q15633	OTTHUMG00000169855	ENST00000552857.1:c.340+356C>T	12.37:g.53898955C>T		NA	Q12878|Q8WY32|Q8WY33|Q9BRY2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.224601	0.95139	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.92495	-3.05;-3.05;-3.05	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97636	1.0145	10	0.87932	D	0	-16.1595	17.5584	0.87900	0.0:1.0:0.0:0.0	.	217	Q15633	TRBP2_HUMAN	V	217;196;196	ENSP00000266987:A217V;ENSP00000416077:A196V;ENSP00000377885:A196V	ENSP00000266987:A217V	A	+	2	0	TARBP2	52185222	0.999000	0.42202	0.518000	0.27811	0.879000	0.50718	4.317000	0.59184	2.759000	0.94783	0.561000	0.74099	GCG	TARBP2-021	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406280.1		+	ENST00000552857.1	Intron	SNP	12 : 53898955 - 53898955 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	669	6
TENM3	55714	broad.mit.edu	37	4	183594344	183594344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:183594344G>A	ENST00000511685.1	+	7	1421	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R433Q					teneurin transmembrane protein 3	NA											NA						GTATATGGCCGGAAAGGCTTA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	4		NA											NA				183594344		1817	4081	5898	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1298G>A	4.37:g.183594344G>A	ENSP00000424226:p.Arg433Gln	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952737	0.92660	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.34472	1.36;1.36	4.8	4.8	0.61643	.	.	.	.	.	T	0.63628	0.2527	M	0.82517	2.595	0.58432	D	0.999997	D	0.69078	0.997	D	0.67725	0.953	T	0.69932	-0.5011	9	0.87932	D	0	.	18.4115	0.90552	0.0:0.0:1.0:0.0	.	433	Q9P273	TEN3_HUMAN	Q	433	ENSP00000424226:R433Q;ENSP00000385276:R433Q	ENSP00000385276:R433Q	R	+	2	0	ODZ3	183831338	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	9.601000	0.98297	2.634000	0.89283	0.655000	0.94253	CGG	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183594344 - 183594344 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	166	22
TMEM132D	121256	broad.mit.edu	37	12	130184773	130184773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:130184773G>A	ENST00000422113.2	-	2	876	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	184						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCTGCAGCCGGCAGCTGCCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	12		NA											NA				130184773		2197	4288	6485	SO:0001583	missense			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.550C>T	12.37:g.130184773G>A	ENSP00000408581:p.Arg184Trp	NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647589	0.67358	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.22	3.2	0.36748	.	0.585904	0.15144	N	0.278095	T	0.37461	0.1004	M	0.86740	2.835	0.32312	N	0.563638	D	0.76494	0.999	P	0.59288	0.855	T	0.56529	-0.7964	9	.	.	.	-33.4486	13.4612	0.61229	0.0:0.0:0.5014:0.4986	.	184	Q14C87	T132D_HUMAN	W	184	ENSP00000408581:R184W	.	R	-	1	2	TMEM132D	128750726	0.099000	0.21834	0.990000	0.47175	0.952000	0.60782	0.262000	0.18460	1.122000	0.41944	0.555000	0.69702	CGG	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Missense_Mutation	SNP	12 : 130184773 - 130184773 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	244	21
TMEM198	130612	broad.mit.edu	37	2	220414551	220414551	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:220414551G>T	ENST00000344458.2	+	6	1643	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	TMEM198_ENST00000373883.3_Missense_Mutation_p.C353F			Q66K66	TM198_HUMAN	transmembrane protein 198	353						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGACAGCCTGCTCAGGCCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	60	58			NA	NA	2		NA											NA				220414551		2203	4300	6503	SO:0001583	missense			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760	130612	130612			33704	protein-coding gene	gene with protein product					NA		Standard	NM_001005209	NM_001005209	NA	Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.1058G>T	2.37:g.220414551G>T	ENSP00000343507:p.Cys353Phe	NA		37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385363	0.42308	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	.	0.567610	0.18237	N	0.147345	T	0.41442	0.1159	N	0.08118	0	0.42499	D	0.992924	B	0.29909	0.261	B	0.28139	0.086	T	0.41288	-0.9517	9	0.46703	T	0.11	-22.6022	18.6999	0.91617	0.0:0.0:1.0:0.0	.	353	Q66K66	TM198_HUMAN	F	353	.	ENSP00000343507:C353F	C	+	2	0	TMEM198	220122795	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.327000	0.52045	2.824000	0.97209	0.655000	0.94253	TGC	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131063.1		+	ENST00000344458.2	Missense_Mutation	SNP	2 : 220414551 - 220414551 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	600	49
TMEM52	339456	broad.mit.edu	37	1	1849752	1849752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:1849752G>A	ENST00000378602.3	-	1	484	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	TMEM52_ENST00000310991.3_Missense_Mutation_p.P97S			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	97						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTCGCAGGGCTGCCGTGCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	1		NA											NA				1849752		2203	4299	6502	SO:0001583	missense			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821	339456	339456			27916	protein-coding gene	gene with protein product					NA		Standard	NM_178545	NM_178545	NA	Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000378602.3:c.244C>T	1.37:g.1849752G>A	ENSP00000367865:p.Pro82Ser	NA	Q4VXS6|Q6UX25	37		.	.	.	.	.	.	.	.	.	.	.	13.04	2.117061	0.37339	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.56776	0.44;0.44	3.92	2.99	0.34606	.	0.000000	0.52532	D	0.000072	T	0.57710	0.2072	M	0.68317	2.08	0.29515	N	0.853898	B;P	0.50819	0.06;0.939	B;P	0.50934	0.046;0.654	T	0.59542	-0.7435	10	0.72032	D	0.01	-26.7541	9.9162	0.41436	0.1049:0.0:0.8951:0.0	.	97;82	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	S	82;97	ENSP00000367865:P82S;ENSP00000311122:P97S	ENSP00000311122:P97S	P	-	1	0	TMEM52	1839612	0.947000	0.32204	0.526000	0.27913	0.180000	0.23129	1.620000	0.36976	0.763000	0.33175	0.511000	0.50034	CCC	TMEM52-004	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000002784.2		-	ENST00000378602.3	Missense_Mutation	SNP	1 : 1849752 - 1849752 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	311	27
TNR	7143	broad.mit.edu	37	1	175292513	175292513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:175292513G>A	ENST00000367674.2	-	23	4765	c.4057C>T	c.(4057-4059)Cgg>Tgg	p.R1353W	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1353W			Q92752	TENR_HUMAN	tenascin R	NA					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGGACTGCCGTTTTCTCCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	138	143			NA	NA	1		NA											NA				175292513		2203	4300	6503	SO:0001583	missense			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147	7143	7143		Fibrinogen C domain containing, Fibronectin type III domain containing	11953	protein-coding gene	gene with protein product	restrictin, janusin	601995			NA	8626505, 8940128	Standard	NM_003285	NM_003285	NA	Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.4057C>T	1.37:g.175292513G>A	ENSP00000356646:p.Arg1353Trp	NA	C9J563|Q15568|Q5R3G0	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.823924	0.50739	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.29142	1.58;1.58	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.47716	1.5	0.53005	D	0.99996	D	0.89917	1.0	D	0.63283	0.913	T	0.40213	-0.9575	10	0.87932	D	0	.	13.652	0.62316	0.0:0.0:0.8451:0.1549	.	1353	Q92752	TENR_HUMAN	W	1353;1353;1263	ENSP00000356646:R1353W;ENSP00000263525:R1353W	ENSP00000263525:R1353W	R	-	1	2	TNR	173559136	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.266000	0.51569	2.513000	0.84729	0.561000	0.74099	CGG	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084414.4		-	ENST00000367674.2	Missense_Mutation	SNP	1 : 175292513 - 175292513 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	721	58
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125			NA	NA	17		NA											NA				7577539		2203	4300	6503	SO:0001583	missense	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.742C>T	17.37:g.7577539G>A	ENSP00000391127:p.Arg248Trp	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	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577539 - 7577539 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	347	44
TRIM58	25893	broad.mit.edu	37	1	248028136	248028136	+	Missense_Mutation	SNP	C	C	T	rs28361506		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:248028136C>T	ENST00000366481.3	+	3	694	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	216						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGACTGCGGGAGAGCAA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	27	29	29		646	3.4	0.2	1	dbSNP_125	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRIM58	NM_015431.3	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	216/487	248028136	1,13005	2203	4300	6503	SO:0001583	missense			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722	25893	25893		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	24150	protein-coding gene	gene with protein product			tripartite motif-containing 58		NA		Standard	NM_015431	NM_015431	NA	Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.646C>T	1.37:g.248028136C>T	ENSP00000355437:p.Arg216Trp	NA	Q6B0H9	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151754	0.38021	0.0	1.16E-4	ENSG00000162722	ENST00000366481	T	0.05382	3.45	4.35	3.36	0.38483	.	0.131051	0.33217	N	0.005145	T	0.21347	0.0514	M	0.86268	2.805	0.30934	N	0.726538	D	0.76494	0.999	P	0.61477	0.889	T	0.04153	-1.0973	10	0.72032	D	0.01	.	9.2175	0.37355	0.3172:0.6828:0.0:0.0	.	216	Q8NG06	TRI58_HUMAN	W	216	ENSP00000355437:R216W	ENSP00000355437:R216W	R	+	1	2	TRIM58	246094759	0.000000	0.05858	0.198000	0.23420	0.077000	0.17291	-0.204000	0.09425	2.413000	0.81919	0.655000	0.94253	CGG	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096860.1		+	ENST00000366481.3	Missense_Mutation	SNP	1 : 248028136 - 248028136 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	197	23
TRPC3	7222	broad.mit.edu	37	4	122846207	122846207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:122846207C>T	ENST00000264811.5	-	2	1341	c.923G>A	c.(922-924)cGt>cAt	p.R308H	TRPC3_ENST00000379645.3_Missense_Mutation_p.R381H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	296					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R308P(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTTGACACGACTTAATGA	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)	ovary(1)											211	188	196			NA	NA	4		NA											NA				122846207		2203	4300	6503	SO:0001583	missense			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741	7222	7222		Voltage-gated ion channels / Transient receptor potential cation channels	12335	protein-coding gene	gene with protein product		602345			NA	8646775, 16382100	Standard	NM_003305	NM_003305	NA	Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000264811.5:c.923G>A	4.37:g.122846207C>T	ENSP00000264811:p.Arg308His	NA	O00593|Q15660|Q52M35	37	CCDS3725.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670425	0.96754	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.74315	-0.83;-0.83;-0.83	5.92	5.92	0.95590	.	0.075570	0.56097	D	0.000024	D	0.89643	0.6774	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	0.986;1.0;0.996	P;D;P	0.70716	0.684;0.97;0.781	D	0.90928	0.4788	10	0.87932	D	0	-16.1466	20.3081	0.98638	0.0:1.0:0.0:0.0	.	296;308;381	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	H	308;381;308	ENSP00000264811:R308H;ENSP00000368966:R381H;ENSP00000426899:R308H	ENSP00000264811:R308H	R	-	2	0	TRPC3	123065657	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.755000	0.85180	2.795000	0.96236	0.655000	0.94253	CGT	TRPC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256709.1		-	ENST00000264811.5	Missense_Mutation	SNP	4 : 122846207 - 122846207 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	667	112
TRPM1	4308	broad.mit.edu	37	15	31319127	31319127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:31319127G>A	ENST00000397795.2	-	25	3534	c.3421C>T	c.(3421-3423)Cgt>Tgt	p.R1141C	TRPM1_ENST00000256552.6_Missense_Mutation_p.R1163C|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1180C	NM_002420.5	NP_002411.3	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1141					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCAATCCACGATCCCGTTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	117	119			NA	NA	15		NA											NA				31319127		1911	4129	6040	SO:0001583	missense			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160	4308	4308		Voltage-gated ion channels / Transient receptor potential cation channels	7146	protein-coding gene	gene with protein product		603576	melastatin 1	MLSN1	NA	9806836, 9537257, 16382100	Standard	NM_002420	NM_001252020	NA	Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000397795.2:c.3421C>T	15.37:g.31319127G>A	ENSP00000380897:p.Arg1141Cys	NA	O75560|Q7Z4N1|Q7Z4N3|Q7Z4N4|Q7Z4N5	37	CCDS10024.2	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648605	0.67358	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.36878	1.23;1.23;1.23	5.79	5.79	0.91817	.	0.110302	0.64402	D	0.000012	T	0.43656	0.1257	L	0.47716	1.5	0.52501	D	0.999952	P;P	0.47962	0.903;0.843	P;P	0.51229	0.663;0.462	T	0.18461	-1.0336	10	0.48119	T	0.1	-12.7835	13.9482	0.64099	0.0:0.0:0.7473:0.2527	.	1135;1141	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1141;1180;1163;1141	ENSP00000380897:R1141C;ENSP00000437849:R1180C;ENSP00000256552:R1163C	ENSP00000256552:R1163C	R	-	1	0	TRPM1	29106419	0.999000	0.42202	0.962000	0.40283	0.942000	0.58702	2.188000	0.42612	2.736000	0.93811	0.655000	0.94253	CGT	TRPM1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251378.1		-	ENST00000397795.2	Missense_Mutation	SNP	15 : 31319127 - 31319127 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	531	51
TSHZ3	57616	broad.mit.edu	37	19	31769759	31769759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:31769759C>T	ENST00000240587.4	-	2	1267	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A314T(1)|p.A131T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGATTTTGGCGGCGACAGGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											88	89	89			NA	NA	19		NA											NA				31769759		2203	4300	6503	SO:0001583	missense			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297	57616	57616		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	30700	protein-coding gene	gene with protein product	teashirt 3	614119	zinc finger protein 537, teashirt family zinc finger 3	ZNF537	NA		Standard	NM_020856	NM_020856	NA	Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.940G>A	19.37:g.31769759C>T	ENSP00000240587:p.Ala314Thr	NA	Q9H0G6|Q9P254	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449292	0.01080	.	.	ENSG00000121297	ENST00000240587	T	0.11821	2.74	5.46	3.34	0.38264	.	0.108055	0.64402	N	0.000007	T	0.07324	0.0185	N	0.16790	0.44	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14587	-1.0467	10	0.07325	T	0.83	-21.948	11.5359	0.50636	0.0:0.8554:0.0:0.1446	.	314	Q63HK5	TSH3_HUMAN	T	314	ENSP00000240587:A314T	ENSP00000240587:A314T	A	-	1	0	TSHZ3	36461599	1.000000	0.71417	0.875000	0.34327	0.217000	0.24651	5.772000	0.68889	1.294000	0.44707	-0.150000	0.13652	GCC	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316743.2		-	ENST00000240587.4	Missense_Mutation	SNP	19 : 31769759 - 31769759 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	562	7
TTC19	54902	broad.mit.edu	37	17	15903527	15903527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:15903527G>A	ENST00000261647.5	+	2	749	c.280G>A	c.(280-282)Gca>Aca	p.A94T	TTC19_ENST00000486880.2_Missense_Mutation_p.A215T|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	94					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGAGGCCGAGGCAGAGATCAT	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	19	16			NA	NA	17		NA											NA				15903527		2179	4260	6439	SO:0001583	missense			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295	54902	54902		Tetratricopeptide (TTC) repeat domain containing	26006	protein-coding gene	gene with protein product		613814			NA		Standard	NM_017775	NM_017775	NA	Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.280G>A	17.37:g.15903527G>A	ENSP00000261647:p.Ala94Thr	NA	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	37	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688773	0.29962	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	D	0.83419	-1.72	5.06	4.02	0.46733	.	0.498025	0.19407	N	0.115021	T	0.74313	0.3700	L	0.28115	0.83	0.26820	N	0.968808	.	.	.	.	.	.	T	0.62210	-0.6902	8	0.14656	T	0.56	-9.3213	12.296	0.54847	0.0:0.1872:0.8128:0.0	.	.	.	.	T	94;215;94	ENSP00000261647:A94T	ENSP00000261647:A215T	A	+	1	0	TTC19	15844252	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	2.821000	0.48065	2.355000	0.79922	0.549000	0.68633	GCA	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131725.6		+	ENST00000261647.5	Missense_Mutation	SNP	17 : 15903527 - 15903527 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	162	23
USP6	9098	broad.mit.edu	37	17	5072190	5072190	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:5072190G>A	ENST00000574788.1	+	35	5587	c.3357G>A	c.(3355-3357)caG>caA	p.Q1119Q	USP6_ENST00000250066.6_Silent_p.Q1119Q|USP6_ENST00000304328.5_Silent_p.Q802Q|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1119					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCTGCCAGCATAAACCAC	0.493		NA	T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													104	112	109			NA	NA	17		NA											NA				5072190		2203	4300	6503	SO:0001819	synonymous_variant			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	9098	9098	3.4.19.12	Ubiquitin-specific peptidases	12629	protein-coding gene	gene with protein product	ubiquitin carboxyl-terminal hydrolase 6, TBC1D3 and USP32 fusion, Tre-2 oncogene	604334	ubiquitin specific protease 6 (Tre-2 oncogene), TRE oncogene, Smith Magenis syndrome chromosome region, ubiquitin specific peptidase 6 (Tre-2 oncogene)	HRP1, TRESMCR	NA	12838346, 1349106	Standard	NM_004505	NM_004505	NA	Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3357G>A	17.37:g.5072190G>A		NA	Q15634|Q86WP6|Q8IWT4	37	CCDS11069.2																																																																																			USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438990.1		+	ENST00000574788.1	Silent	SNP	17 : 5072190 - 5072190 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	814	6
YIPF3	25844	broad.mit.edu	37	6	43483392	43483392	+	Silent	SNP	G	G	A	rs140780761	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:43483392G>A	ENST00000506469.1	-	3	487	c.354C>T	c.(352-354)taC>taT	p.Y118Y	YIPF3_ENST00000372422.2_Silent_p.Y112Y			Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	112					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CGATGTTGGCGTACAAGCTGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4404	6.2+/-15.9	0,2,2201	125	116	119		336	-8.4	0.7	6	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	YIPF3	NM_015388.3		0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154		112/351	43483392	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207	25844	25844		Yip1 domain family	21023	protein-coding gene	gene with protein product		609775	chromosome 6 open reading frame 109	C6orf109	NA		Standard	NM_015388	NM_015388	NA	Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000506469.1:c.354C>T	6.37:g.43483392G>A		NA	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	37		.	.	.	.	.	.	.	.	.	.	G	9.127	1.010558	0.19277	4.54E-4	0.0	ENSG00000137207	ENST00000500090	.	.	.	5.81	-8.4	0.00965	.	.	.	.	.	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65952	-0.6043	4	.	.	.	-11.1139	15.6501	0.77084	0.2183:0.0:0.6945:0.0872	.	.	.	.	M	12	.	.	T	-	2	0	YIPF3	43591370	0.172000	0.23043	0.740000	0.30986	0.972000	0.66771	-0.370000	0.07523	-1.626000	0.01552	-0.459000	0.05422	ACG	YIPF3-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358714.1		-	ENST00000506469.1	Silent	SNP	6 : 43483392 - 43483392 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	587	6
ZC3H7A	29066	broad.mit.edu	37	16	11859420	11859420	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:11859420G>A	ENST00000396516.2	-	13	1841	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZC3H7A_ENST00000355758.4_Silent_p.G548G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	548						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TTCCATTGCCGCCAAAGAAAG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4394		0,0,2197	97	95	95		1644	1	1	16		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZC3H7A	NM_014153.3		0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077		548/972	11859420	1,12993	2197	4300	6497	SO:0001819	synonymous_variant			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299	29066	29066		Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing	30959	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 7, zinc finger CCCH-type containing 7	ZC3HDC7, ZC3H7	NA	11042152	Standard	NM_014153	NM_014153	NA	Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1644C>T	16.37:g.11859420G>A		NA	D3DUG5|Q9NPE9	37	CCDS10550.1																																																																																			ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437066.1		-	ENST00000396516.2	Silent	SNP	16 : 11859420 - 11859420 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	502	5
ZIC5	85416	broad.mit.edu	37	13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	660					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTATCGTCCGCACAACTTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	66	66			NA	NA	13		NA											NA				100617645		2203	4300	6503	SO:0001583	missense			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800	85416	85416		Zinc fingers, C2H2-type	20322	protein-coding gene	gene with protein product			Zic family member 5 (odd-paired homolog, Drosophila)		NA		Standard	NM_033132	NM_033132	NA	Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1978C>T	13.37:g.100617645G>A	ENSP00000267294:p.Arg660Trp	NA	Q5VYB0	37	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556755	0.65425	.	.	ENSG00000139800	ENST00000267294	T	0.18016	2.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.29321	0.0730	L	0.36672	1.1	0.35097	D	0.764889	D	0.89917	1.0	D	0.69654	0.965	T	0.18335	-1.0340	9	0.87932	D	0	.	11.1163	0.48262	0.0:0.0:0.7346:0.2654	.	660	Q96T25	ZIC5_HUMAN	W	660	ENSP00000267294:R660W	ENSP00000267294:R660W	R	-	1	2	ZIC5	99415646	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	2.915000	0.48805	2.871000	0.98454	0.655000	0.94253	CGG	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045623.3		-	ENST00000267294.4	Missense_Mutation	SNP	13 : 100617645 - 100617645 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	586	5
ZNF24	7572	broad.mit.edu	37	18	32920384	32920384	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:32920384G>A	ENST00000589881.1	-	1	234	c.231C>T	c.(229-231)tgC>tgT	p.C77C	ZNF24_ENST00000399061.3_Silent_p.C77C|ZNF24_ENST00000261332.6_Silent_p.C77C			P17028	ZNF24_HUMAN	zinc finger protein 24	77	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCCACAGACGGCAAAGTTCTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(42;769 913 8916 19469 46270)							NA				0													104	106	105			NA	NA	18		NA											NA				32920384		2203	4300	6503	SO:0001819	synonymous_variant			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466	7572	7572		-, Zinc fingers, C2H2-type	13032	protein-coding gene	gene with protein product		194534	zinc finger protein 24 (KOX 17)	ZNF191	NA		Standard	NM_006965	NM_006965	NA	Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000589881.1:c.231C>T	18.37:g.32920384G>A		NA	O14754|Q53YE4|Q6ICR5|Q8IZN4	37																																																																																				ZNF24-003	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442598.2		-	ENST00000589881.1	Silent	SNP	18 : 32920384 - 32920384 A PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	653	6
ZNF418	147686	broad.mit.edu	37	19	58437576	58437576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58437576C>T	ENST00000396147.1	-	4	2264	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	ZNF418_ENST00000599852.1_Missense_Mutation_p.R573Q|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.R658Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGAAGAGCTTCGATGAAATGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4404		0,0,2202	111	114	113		1973	-1.4	0	19		113	1,8597		0,1,4298	no	missense	ZNF418	NM_133460.1	43	0,1,6500	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	658/677	58437576	1,13001	2202	4299	6501	SO:0001583	missense			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724	147686	147686		Zinc fingers, C2H2-type, -	20647	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133460	NM_133460	NA	Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1973G>A	19.37:g.58437576C>T	ENSP00000379451:p.Arg658Gln	NA	Q2M1S2|Q670L5|Q96N18	37	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	3.656	-0.070523	0.07228	0.0	1.16E-4	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07567	3.18;3.18	2.41	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.02334	-0.595	0.09310	N	1	B	0.24132	0.098	B	0.10450	0.005	T	0.44283	-0.9338	9	0.02654	T	1	.	6.7371	0.23415	0.0:0.4089:0.0:0.5911	.	658	Q8TF45	ZN418_HUMAN	Q	658;679;624	ENSP00000379451:R658Q;ENSP00000407039:R679Q	ENSP00000379451:R658Q	R	-	2	0	ZNF418	63129388	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-3.966000	0.00324	-0.253000	0.09514	0.313000	0.20887	CGA	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466693.1		-	ENST00000396147.1	Missense_Mutation	SNP	19 : 58437576 - 58437576 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	504	13
ZNF473	25888	broad.mit.edu	37	19	50548807	50548807	+	Silent	SNP	C	C	T	rs148474136	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:50548807C>T	ENST00000595661.1	+	6	1602	c.1107C>T	c.(1105-1107)caC>caT	p.H369H	ZNF473_ENST00000391821.2_Silent_p.H369H|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.H357H|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Silent_p.H369H|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	369	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGAAAACTCACGCTGCAAAAA	0.498		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	72	67	68		1107,1107	0.7	0	19	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,5,6498	TT,TC,CC	NA	0.0116,0.0908,0.0384	,	369/872,369/872	50548807	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			AB032967	CCDS33077.1	19q13.33	2013-01-08					25888	25888		Zinc fingers, C2H2-type, -	23239	protein-coding gene	gene with protein product					NA	11782445	Standard	XM_046390	NM_015428	NA	Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1107C>T	19.37:g.50548807C>T		NA	A8K8T7|Q9ULS9|Q9Y4Q7	37	CCDS33077.1																																																																																			ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464833.1		+	ENST00000595661.1	Silent	SNP	19 : 50548807 - 50548807 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	429	16
ZNF480	147657	broad.mit.edu	37	19	52817449	52817449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52817449C>T	ENST00000490272.1	+	3	136				ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.A39V|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000595962.1_Missense_Mutation_p.A39V			Q8WV37	ZN480_HUMAN	zinc finger protein 480	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCTCAGGCGGAGTGGAAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	179	149	159		116	0.9	0.3	19		159	0,8600		0,0,4300	no	missense	ZNF480	NM_144684.2	64	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging	39/536	52817449	1,13005	2203	4300	6503	SO:0001627	intron_variant			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464	147657	147657		Zinc fingers, C2H2-type, -	23305	protein-coding gene	gene with protein product		613910			NA	15219843	Standard	NM_144684	XM_005258525	NA	Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000490272.1:c.73-7383C>T	19.37:g.52817449C>T		NA	Q5JPG9|Q6P0Q4|Q8N1M5	37		.	.	.	.	.	.	.	.	.	.	C	5.169	0.216831	0.09810	2.27E-4	0.0	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.01725	4.67;4.67	2.04	0.945	0.19543	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	L	0.46157	1.445	0.22933	N	0.998546	P;B	0.40476	0.718;0.161	B;B	0.30782	0.038;0.12	T	0.47484	-0.9114	9	0.66056	D	0.02	.	6.0962	0.20021	0.7277:0.2723:0.0:0.0	.	39;39	F8WEZ9;Q8WV37	.;ZN480_HUMAN	V	61;39;39	ENSP00000417424:A39V;ENSP00000334164:A39V	ENSP00000334164:A39V	A	+	2	0	ZNF480	57509261	0.981000	0.34729	0.315000	0.25238	0.071000	0.16799	0.684000	0.25364	0.048000	0.15891	-0.602000	0.04101	GCG	ZNF480-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349002.1		+	ENST00000490272.1	Intron	SNP	19 : 52817449 - 52817449 T PAAD-TCGA-IB-A6UG-Tumor-SM-5437G	716	79
