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
ACTL7B	10880	broad.mit.edu	37	9	111616988	111616988	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr9:111616988C>T	ENST00000374667.3	-	1	2251	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	408						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATGGCCACGCTGCCCCGCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	75	73			NA	NA	9		NA											NA				111616988		2203	4299	6502	SO:0001583	missense			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156	10880	10880			162	protein-coding gene	gene with protein product		604304			NA	10373328, 12907721	Standard	NM_006686	NM_006686	NA	Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1223G>A	9.37:g.111616988C>T	ENSP00000363799:p.Ser408Asn	NA	B2R9Q2|Q5JSV1	37	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673410	0.29693	.	.	ENSG00000148156	ENST00000374667	T	0.08458	3.09	4.86	3.88	0.44766	.	0.518270	0.16016	N	0.233541	T	0.06645	0.0170	L	0.35414	1.06	0.27593	N	0.949223	B	0.09022	0.002	B	0.09377	0.004	T	0.11131	-1.0600	10	0.87932	D	0	.	5.3794	0.16183	0.0:0.6794:0.2093:0.1113	.	408	Q9Y614	ACL7B_HUMAN	N	408	ENSP00000363799:S408N	ENSP00000363799:S408N	S	-	2	0	ACTL7B	110656809	0.966000	0.33281	0.897000	0.35233	0.481000	0.33189	5.530000	0.67141	2.526000	0.85167	0.561000	0.74099	AGC	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053571.1		-	ENST00000374667.3	Missense_Mutation	SNP	9 : 111616988 - 111616988 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	647	212
ADAMTS12	81792	broad.mit.edu	37	5	33576334	33576334	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr5:33576334C>T	ENST00000504830.1	-	19	4132	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1181H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1266	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						CAGGTGGTTACGGTTTGCCGT	0.498		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	210	211			NA	NA	5		NA											NA				33576334		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.3797G>A	5.37:g.33576334C>T	ENSP00000422554:p.Arg1266His	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	4.206	0.037073	0.08148	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58940	0.3;0.3	5.42	-4.23	0.03789	.	1.345770	0.04358	N	0.357012	T	0.23688	0.0573	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.05037	-1.0910	10	0.36615	T	0.2	.	1.1972	0.01877	0.2381:0.1487:0.3665:0.2468	.	1181;1266	P58397-3;P58397	.;ATS12_HUMAN	H	1266;1181	ENSP00000422554:R1266H;ENSP00000344847:R1181H	ENSP00000344847:R1181H	R	-	2	0	ADAMTS12	33612091	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.729000	0.04920	-0.976000	0.03542	-1.170000	0.01741	CGT	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33576334 - 33576334 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	909	262
ADCY8	114	broad.mit.edu	37	8	131792881	131792881	+	Silent	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr8:131792881G>A	ENST00000286355.5	-	18	5603	c.3511C>T	c.(3511-3513)Ctg>Ttg	p.L1171L	ADCY8_ENST00000377928.3_Silent_p.L1040L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1171					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTCTTCCCAGAAGAAAGTAC	0.517		NA								HNSCC(32;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	197	194			NA	NA	8		NA											NA				131792881		2203	4300	6503	SO:0001819	synonymous_variant			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	114	114	4.6.1.1	Adenylate cyclases	239	protein-coding gene	gene with protein product		103070		ADCY3	NA	8076676	Standard		NM_001115	NA	Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3511C>T	8.37:g.131792881G>A		NA		37	CCDS6363.1																																																																																			ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380080.1		-	ENST00000286355.5	Silent	SNP	8 : 131792881 - 131792881 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	820	127
ADIPOR1	51094	broad.mit.edu	37	1	202912920	202912920	+	Silent	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr1:202912920C>T	ENST00000340990.5	-	6	1069	c.771G>A	c.(769-771)cgG>cgA	p.R257R	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.V168I|ADIPOR1_ENST00000436244.1_Silent_p.R257R	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	257					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GAGTGGCAAACCGGTCCCACT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	67	72			NA	NA	1		NA											NA				202912920		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346	51094	51094		GPCR / Unclassified : Adiponectin receptors	24040	protein-coding gene	gene with protein product		607945			NA	12802337	Standard	NM_015999	XM_006711360	NA	Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.771G>A	1.37:g.202912920C>T		NA	B3KMB0|Q53HS7|Q53YY6|Q9Y360	37	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132589	0.37630	.	.	ENSG00000159346	ENST00000367254	T	0.41400	1.0	5.99	4.02	0.46733	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.20975	N	0.999818	.	.	.	.	.	.	T	0.23332	-1.0191	6	0.26408	T	0.33	.	13.1944	0.59730	0.4425:0.5575:0.0:0.0	.	.	.	.	I	168	ENSP00000356223:V168I	ENSP00000356223:V168I	V	-	1	0	ADIPOR1	201179543	0.438000	0.25602	1.000000	0.80357	0.993000	0.82548	-0.363000	0.07593	1.469000	0.48083	0.655000	0.94253	GTT	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099160.2		-	ENST00000340990.5	Silent	SNP	1 : 202912920 - 202912920 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	238	70
AICDA	57379	broad.mit.edu	37	12	8758079	8758079	+	Silent	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr12:8758079G>A	ENST00000229335.6	-	3	262	c.159C>T	c.(157-159)aaC>aaT	p.N53N	AICDA_ENST00000537228.1_Silent_p.N53N	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	53					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CGTGGCAGCCGTTCTGGAGAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(62;896 1067 5527 26594 30137)							NA				0													48	50	49			NA	NA	12		NA											NA				8758079		2025	4192	6217	SO:0001819	synonymous_variant			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732	57379	57379		Apolipoprotein B mRNA editing enzymes	13203	protein-coding gene	gene with protein product		605257			NA		Standard	NM_020661	NM_020661	NA	Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.159C>T	12.37:g.8758079G>A		NA		37	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.099095	0.01843	.	.	ENSG00000111732	ENST00000543081;ENST00000545512	.	.	.	4.91	-9.83	0.00482	.	.	.	.	.	T	0.22975	0.0555	.	.	.	0.24673	N	0.993408	.	.	.	.	.	.	T	0.33033	-0.9884	4	.	.	.	-0.0146	6.3891	0.21577	0.2012:0.4948:0.1355:0.1685	.	.	.	.	M	52	.	.	T	-	2	0	AICDA	8649346	.	.	0.000000	0.03702	0.016000	0.09150	.	.	-6.047000	0.00007	-1.474000	0.01003	ACG	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400575.1		-	ENST00000229335.6	Silent	SNP	12 : 8758079 - 8758079 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	239	79
ANKRD28	23243	broad.mit.edu	37	3	15762529	15762529	+	Missense_Mutation	SNP	G	G	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr3:15762529G>T	ENST00000399451.2	-	8	1166	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.Q300K	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	267						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TCATTCTTTTGATTCACAATA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	224	226			NA	NA	3		NA											NA				15762529		1904	4132	6036	SO:0001583	missense			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560	23243	23243		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	29024	protein-coding gene	gene with protein product	phosphatase interactor targeting K protein, protein phosphatase 6 ankyrin repeat subunit A, protein phosphatase 1, regulatory subunit 65	611122			NA	9205841	Standard	NM_015199	NM_015199	NA	Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.799C>A	3.37:g.15762529G>T	ENSP00000382379:p.Gln267Lys	NA	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913595	0.92178	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.64803	-0.12;-0.12;-0.12	6.03	6.03	0.97812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	N	0.11131	0.1	0.80722	D	1	P;B;D	0.53745	0.953;0.41;0.962	P;P;P	0.50537	0.511;0.469;0.643	T	0.47861	-0.9084	10	0.02654	T	1	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	300;297;267	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	K	267;300;267	ENSP00000382379:Q267K;ENSP00000373287:Q300K;ENSP00000397341:Q267K	ENSP00000373287:Q300K	Q	-	1	0	ANKRD28	15737533	1.000000	0.71417	0.997000	0.53966	0.680000	0.39746	9.813000	0.99286	2.868000	0.98415	0.557000	0.71058	CAA	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339758.1		-	ENST00000399451.2	Missense_Mutation	SNP	3 : 15762529 - 15762529 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	780	33
BAHD1	22893	broad.mit.edu	37	15	40756089	40756089	+	Missense_Mutation	SNP	C	C	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr15:40756089C>G	ENST00000561234.1	+	4	2101	c.1842C>G	c.(1840-1842)agC>agG	p.S614R	BAHD1_ENST00000560846.1_Missense_Mutation_p.S615R|BAHD1_ENST00000416165.1_Missense_Mutation_p.S615R			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	615					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TCCGAAAGAGCTACCAGGCGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	84			NA	NA	15		NA											NA				40756089		2203	4300	6503	SO:0001583	missense			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320	22893	22893			29153	protein-coding gene	gene with protein product		613880			NA	10231032	Standard	NM_014952	XM_005254229	NA	Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000561234.1:c.1842C>G	15.37:g.40756089C>G	ENSP00000454150:p.Ser614Arg	NA	Q8NDF7|Q9Y2F4	37		.	.	.	.	.	.	.	.	.	.	C	19.64	3.865419	0.71949	.	.	ENSG00000140320	ENST00000416165	T	0.19532	2.14	5.28	3.39	0.38822	.	0.047096	0.85682	D	0.000000	T	0.26521	0.0648	N	0.19112	0.55	0.48452	D	0.999658	D;D;D	0.76494	0.998;0.998;0.999	D;P;D	0.72982	0.979;0.896;0.952	T	0.02437	-1.1159	10	0.49607	T	0.09	-20.384	8.4695	0.32977	0.0:0.7629:0.0:0.2371	.	615;615;614	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	R	615	ENSP00000396976:S615R	ENSP00000396976:S615R	S	+	3	2	BAHD1	38543381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.825000	0.39081	0.795000	0.33922	-0.136000	0.14681	AGC	BAHD1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000418756.1		+	ENST00000561234.1	Missense_Mutation	SNP	15 : 40756089 - 40756089 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	177	59
BCOR	54880	broad.mit.edu	37	X	39916575	39916575	+	Splice_Site	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chrX:39916575C>T	ENST00000342274.4	-	11	4689		c.e11-1		BCOR_ENST00000378455.4_Splice_Site|BCOR_ENST00000378463.1_Splice_Site|BCOR_ENST00000397354.3_Splice_Site|BCOR_ENST00000378444.4_Splice_Site	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	NA					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGACCACTTCCTGTGGGGAGG	0.517		NA	F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)	GRCh37	CS041114	BCOR	S							85	56	66			NA	NA	X		NA											NA				39916575		2202	4300	6502	SO:0001630	splice_region_variant			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337	54880	54880		Ankyrin repeat domain containing	20893	protein-coding gene	gene with protein product		300485	BCL6 co-repressor		NA	10898795	Standard	NM_017745	NM_017745	NA	Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000342274.4:c.4327-1G>A	X.37:g.39916575C>T		NA	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	37	CCDS14250.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125661	0.77436	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018;ENST00000427012	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2232	0.89907	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCOR	39801519	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	7.487000	0.81328	2.240000	0.73641	0.600000	0.82982	.	BCOR-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060670.1	Intron	-	ENST00000342274.4	Splice_Site	SNP	X : 39916575 - 39916575 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	63	47
BRWD1	54014	broad.mit.edu	37	21	40684828	40684828	+	Splice_Site	SNP	T	T	C			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr21:40684828T>C	ENST00000380800.3	-	4	237		c.e4-2		BRWD1_ENST00000333229.2_Splice_Site|BRWD1_ENST00000342449.3_Splice_Site|BRWD1_ENST00000341322.4_Splice_Site|BRWD1_ENST00000470108.1_Splice_Site			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CGGCAACAACTGGAAAGACAC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													77	46	57			NA	NA	21		NA											NA				40684828		2203	4300	6503	SO:0001630	splice_region_variant			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.139-2A>G	21.37:g.40684828T>C		NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	T	22.5	4.297576	0.81025	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3425	0.55101	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD1	39606698	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.271000	0.72569	1.540000	0.49301	0.460000	0.39030	.	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1	Intron	-	ENST00000380800.3	Splice_Site	SNP	21 : 40684828 - 40684828 C PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	148	81
BRWD1	54014	broad.mit.edu	37	21	40568799	40568799	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr21:40568799C>T	ENST00000380800.3	-	41	6294	c.6196G>A	c.(6196-6198)Gat>Aat	p.D2066N	BRWD1_ENST00000333229.2_Missense_Mutation_p.D2066N|BRWD1_ENST00000342449.3_Missense_Mutation_p.D2066N			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATGTCCTATCAGTCTCACTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													132	134	133			NA	NA	21		NA											NA				40568799		2203	4300	6503	SO:0001583	missense			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.6196G>A	21.37:g.40568799C>T	ENSP00000370178:p.Asp2066Asn	NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241252	0.01493	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.52754	0.65;0.67;0.74	5.16	2.99	0.34606	.	0.422856	0.24564	N	0.037450	T	0.21062	0.0507	N	0.12569	0.235	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26677	-1.0096	10	0.02654	T	1	-2.9331	6.1468	0.20291	0.0:0.6015:0.0:0.3985	.	2066;2066	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	N	2066	ENSP00000330753:D2066N;ENSP00000344333:D2066N;ENSP00000370178:D2066N	ENSP00000330753:D2066N	D	-	1	0	BRWD1	39490669	0.000000	0.05858	0.005000	0.12908	0.657000	0.38888	0.448000	0.21726	1.174000	0.42811	0.655000	0.94253	GAT	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1		-	ENST00000380800.3	Missense_Mutation	SNP	21 : 40568799 - 40568799 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	455	233
BSN	8927	broad.mit.edu	37	3	49662449	49662449	+	Missense_Mutation	SNP	A	A	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr3:49662449A>G	ENST00000296452.4	+	2	380	c.266A>G	c.(265-267)cAg>cGg	p.Q89R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	89					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGGGTAACCAGAGAGCAGCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	3		NA											NA				49662449		2203	4300	6503	SO:0001583	missense			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061	8927	8927			1117	protein-coding gene	gene with protein product	zinc finger protein 231, neuronal double zinc finger protein	604020	bassoon (presynaptic cytomatrix protein)	ZNF231	NA	9806829, 10329005	Standard	NM_003458	NM_003458	NA	Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.266A>G	3.37:g.49662449A>G	ENSP00000296452:p.Gln89Arg	NA	O43161|Q7LGH3	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052432	0.55218	.	.	ENSG00000164061	ENST00000296452	T	0.19105	2.17	5.48	5.48	0.80851	.	0.000000	0.42053	D	0.000776	T	0.28995	0.0720	N	0.22421	0.69	0.32125	N	0.587484	D	0.76494	0.999	D	0.66084	0.941	T	0.15983	-1.0418	10	0.17832	T	0.49	-15.1882	15.2421	0.73480	1.0:0.0:0.0:0.0	.	89	Q9UPA5	BSN_HUMAN	R	89	ENSP00000296452:Q89R	ENSP00000296452:Q89R	Q	+	2	0	BSN	49637453	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.893000	0.56243	2.088000	0.63022	0.460000	0.39030	CAG	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258164.1		+	ENST00000296452.4	Missense_Mutation	SNP	3 : 49662449 - 49662449 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	339	89
CAMTA1	23261	broad.mit.edu	37	1	6885230	6885230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr1:6885230C>A	ENST00000467404.2	+	3	243	c.230C>A	c.(229-231)tCa>tAa	p.S77*	CAMTA1_ENST00000473578.1_Nonsense_Mutation_p.S65*|CAMTA1_ENST00000303635.7_Nonsense_Mutation_p.S65*|CAMTA1_ENST00000557126.1_Nonsense_Mutation_p.S65*|CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.S65*|CAMTA1_ENST00000476163.1_3'UTR			Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGAAATGTTCAAGTTTACCA	0.333		NA	T	WWTR1	epitheliod hemangioendothelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													83	90	87			NA	NA	1		NA											NA				6885230		2203	4300	6503	SO:0001587	stop_gained			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735	23261	23261			18806	protein-coding gene	gene with protein product		611501			NA	11925432	Standard	NM_015215	NM_001195563	NA	Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000467404.2:c.230C>A	1.37:g.6885230C>A	ENSP00000450530:p.Ser77*	NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37		.	.	.	.	.	.	.	.	.	.	C	38	7.112997	0.98070	.	.	ENSG00000171735	ENST00000303635;ENST00000473578;ENST00000557126;ENST00000467404;ENST00000439411	.	.	.	6.05	6.05	0.98169	.	0.338356	0.21441	N	0.074490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-4.9407	19.5894	0.95501	0.0:1.0:0.0:0.0	.	.	.	.	X	65;65;65;77;65	.	ENSP00000306522:S65X	S	+	2	0	CAMTA1	6807817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.681000	0.84073	2.878000	0.98634	0.650000	0.86243	TCA	CAMTA1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000003590.2		+	ENST00000467404.2	Nonsense_Mutation	SNP	1 : 6885230 - 6885230 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	711	37
CCDC74A	90557	broad.mit.edu	37	2	132290478	132290478	+	Silent	SNP	C	C	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr2:132290478C>G	ENST00000295171.6	+	6	1056	c.918C>G	c.(916-918)ccC>ccG	p.P306P	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.P240P	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	306										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCCAGAGGCCCCAGGCAGCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	59	56			NA	NA	2		NA											NA				132290478		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040	90557	90557			25197	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138770	NM_138770	NA	Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.918C>G	2.37:g.132290478C>G		NA	Q6P4I5	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	12.95	2.092512	0.36952	.	.	ENSG00000163040	ENST00000434330	T	0.54675	0.56	2.94	-0.575	0.11734	.	1.005060	0.08032	U	0.993695	T	0.28400	0.0702	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21621	-1.0240	7	0.20046	T	0.44	.	0.9922	0.01459	0.2259:0.3959:0.2224:0.1558	.	.	.	.	R	195	ENSP00000406839:P195R	ENSP00000406839:P195R	P	+	2	0	CCDC74A	132006948	0.000000	0.05858	0.196000	0.23383	0.184000	0.23303	-0.415000	0.07106	0.341000	0.23771	0.194000	0.17425	CCC	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254570.2		+	ENST00000295171.6	Silent	SNP	2 : 132290478 - 132290478 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	235	72
CD5L	922	broad.mit.edu	37	1	157805945	157805945	+	Splice_Site	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr1:157805945G>A	ENST00000368174.4	-	3	152	c.56C>T	c.(55-57)gCg>gTg	p.A19V	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	19					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.A19V(2)|p.A19E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGGAGACGCTGCAAAGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	breast(2)|lung(1)						G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	32	35	34		56	-2.7	0	1		34	0,8600		0,0,4300	no	missense-near-splice	CD5L	NM_005894.2	64	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	19/348	157805945	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754	922	922			1690	protein-coding gene	gene with protein product		602592	apoptosis inhibitor 6, CD5 antigen-like (scavenger receptor cysteine rich family)	API6	NA	9045627	Standard	NM_005894	NM_005894	NA	Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.56-1C>T	1.37:g.157805945G>A		NA	A8K7M5|Q6UX63	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.297044	0.23650	2.27E-4	0.0	ENSG00000073754	ENST00000368174	T	0.01446	4.88	4.85	-2.73	0.05950	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	1	B	0.25048	0.117	B	0.18871	0.023	T	0.39722	-0.9600	9	0.33141	T	0.24	.	5.7632	0.18211	0.0:0.392:0.1524:0.4556	.	19	O43866	CD5L_HUMAN	V	19	ENSP00000357156:A19V	ENSP00000357156:A19V	A	-	2	0	CD5L	156072569	0.000000	0.05858	0.014000	0.15608	0.049000	0.14656	-1.272000	0.02826	-0.712000	0.04988	-0.388000	0.06559	GCG	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058346.1	Missense_Mutation	-	ENST00000368174.4	Splice_Site	SNP	1 : 157805945 - 157805945 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	186	75
CELF2	10659	broad.mit.edu	37	10	11308568	11308568	+	Silent	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr10:11308568G>A	ENST00000315874.4	+	6	760	c.453G>A	c.(451-453)gcG>gcA	p.A151A	CELF2_ENST00000427450.1_Silent_p.A151A|CELF2_ENST00000542579.1_Silent_p.A182A|CELF2_ENST00000354440.2_Silent_p.A151A|CELF2_ENST00000608830.1_Silent_p.A151A|CELF2_ENST00000416382.2_Silent_p.A175A|CELF2_ENST00000417956.2_Silent_p.A151A|CELF2_ENST00000450189.1_Silent_p.A182A|CELF2_ENST00000399850.3_Silent_p.A151A|CELF2_ENST00000537122.1_Silent_p.A64A|CELF2_ENST00000609692.1_Silent_p.A151A|CELF2_ENST00000354897.3_Silent_p.A151A|CELF2_ENST00000379261.4_Silent_p.A175A	NM_001025076.2|NM_001083591.1	NP_001020247.1|NP_001077060.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	NA	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAGGCTGTGCGTTTGTCACAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	155	158			NA	NA	10		NA											NA				11308568		1981	4163	6144	SO:0001819	synonymous_variant			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740	10659	10659		RNA binding motif (RRM) containing	2550	protein-coding gene	gene with protein product		602538	CUG triplet repeat, RNA-binding protein 2, CUG triplet repeat, RNA binding protein 2	CUGBP2	NA	7869393, 9887331	Standard		NM_006561	NA	Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000315874.4:c.453G>A	10.37:g.11308568G>A		NA	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	37	CCDS41488.1																																																																																			CELF2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046758.2		+	ENST00000315874.4	Silent	SNP	10 : 11308568 - 11308568 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	340	85
CMTR2	55783	broad.mit.edu	37	16	71317850	71317850	+	Missense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr16:71317850C>A	ENST00000338099.5	-	3	2310	c.1974G>T	c.(1972-1974)ttG>ttT	p.L658F	CMTR2_ENST00000434935.2_Missense_Mutation_p.L658F					cap methyltransferase 2	658											NA						GTACAAAGATCAAACCAGCCA	0.423		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	5e-04	SNP								NA				0													79	83	82			NA	NA	16		NA											NA				71317850		2198	4299	6497	SO:0001583	missense			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917	55783	55783			25635	protein-coding gene	gene with protein product	adrift homolog (Drosophila)		FtsJ methyltransferase domain containing 1	FTSJD1	NA	21310715	Standard	NM_018348	NM_018348	NA	Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1974G>T	16.37:g.71317850C>A	ENSP00000337512:p.Leu658Phe	NA		37	CCDS10898.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.30	2.492898	0.44352	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.19938	2.11;2.11	5.64	5.64	0.86602	.	0.415614	0.23391	N	0.048688	T	0.22360	0.0539	L	0.29908	0.895	0.45015	D	0.998031	P	0.50272	0.933	P	0.47251	0.542	T	0.00699	-1.1604	10	0.72032	D	0.01	-5.6096	13.6433	0.62265	0.1545:0.8455:0.0:0.0	.	658	Q8IYT2	FTSJ1_HUMAN	F	658	ENSP00000337512:L658F;ENSP00000411148:L658F	ENSP00000337512:L658F	L	-	3	2	FTSJD1	69875351	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	1.076000	0.30729	2.655000	0.90218	0.462000	0.41574	TTG	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268984.2		-	ENST00000338099.5	Missense_Mutation	SNP	16 : 71317850 - 71317850 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	558	29
COG6	57511	broad.mit.edu	37	13	40273668	40273668	+	Silent	SNP	A	A	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr13:40273668A>G	ENST00000416691.1	+	13	1297	c.1197A>G	c.(1195-1197)ttA>ttG	p.L399L	COG6_ENST00000455146.3_Silent_p.L399L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	399					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CAACTGCATTATTGACTACCA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	13		NA											NA				40273668		2200	4289	6489	SO:0001819	synonymous_variant			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103	57511	57511		Components of oligomeric golgi complex	18621	protein-coding gene	gene with protein product		606977			NA	11980916	Standard		NM_020751	NA	Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000416691.1:c.1197A>G	13.37:g.40273668A>G		NA	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	37	CCDS45042.1																																																																																			COG6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044621.2		+	ENST00000416691.1	Silent	SNP	13 : 40273668 - 40273668 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	305	153
COL5A2	1290	broad.mit.edu	37	2	189957139	189957139	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr2:189957139C>T	ENST00000374866.3	-	7	738	c.464G>A	c.(463-465)cGt>cAt	p.R155H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	155					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTGAGGTCCACGAGGGCCCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	34	35			NA	NA	2		NA											NA				189957139		2203	4300	6503	SO:0001583	missense			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.464G>A	2.37:g.189957139C>T	ENSP00000364000:p.Arg155His	NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498991	0.85069	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93859	-3.3	5.98	5.98	0.97165	.	0.000000	0.52532	D	0.000063	D	0.96731	0.8933	M	0.89353	3.025	0.53688	D	0.999977	D	0.71674	0.998	P	0.59703	0.862	D	0.96735	0.9542	9	.	.	.	.	17.3749	0.87389	0.0:1.0:0.0:0.0	.	155	P05997	CO5A2_HUMAN	H	155;29	ENSP00000364000:R155H	.	R	-	2	0	COL5A2	189665384	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.358000	0.59442	2.835000	0.97688	0.650000	0.86243	CGT	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1		-	ENST00000374866.3	Missense_Mutation	SNP	2 : 189957139 - 189957139 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	53	16
CSMD1	64478	broad.mit.edu	37	8	2831994	2831994	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr8:2831994C>T	ENST00000520002.1	-	57	9277	c.8722G>A	c.(8722-8724)Ggg>Agg	p.G2908R	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2849R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2908R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2850R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2850R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2907R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2908	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCAGTGCCCCGCTCCAGTGA	0.498		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	8		NA											NA				2831994		2000	4160	6160	SO:0001583	missense					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8722G>A	8.37:g.2831994C>T	ENSP00000430733:p.Gly2908Arg	NA	Q0H0J5|Q96QU9|Q96RM4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.327953|1.327953	0.24080|0.24080	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.75260|.	-0.92;-0.92;-0.92;-0.92|.	5.66|5.66	3.86|3.86	0.44501|0.44501	Complement control module (2);Sushi/SCR/CCP (3);|.	0.069267|.	0.56097|.	D|.	0.000027|.	T|T	0.79787|0.79787	0.4506|0.4506	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.995;0.981|.	T|T	0.82086|0.82086	-0.0631|-0.0631	10|5	0.87932|.	D|.	0|.	.|.	11.6412|11.6412	0.51233|0.51233	0.0:0.8083:0.1245:0.0671|0.0:0.8083:0.1245:0.0671	.|.	2908;2908;2849|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	R|Q	2850;2908;2769;2907;2849|2324	ENSP00000383047:G2850R;ENSP00000430733:G2908R;ENSP00000441462:G2907R;ENSP00000446243:G2849R|.	ENSP00000320445:G2769R|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2819401|2819401	1.000000|1.000000	0.71417|0.71417	0.023000|0.023000	0.16930|0.16930	0.003000|0.003000	0.03518|0.03518	7.642000|7.642000	0.83385|0.83385	0.737000|0.737000	0.32582|0.32582	-0.165000|-0.165000	0.13383|0.13383	GGG|CGG	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000374500.2		-	ENST00000520002.1	Missense_Mutation	SNP	8 : 2831994 - 2831994 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	96	53
CSPP1	79848	broad.mit.edu	37	8	68007716	68007716	+	Silent	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr8:68007716C>A	ENST00000262210.5	+	6	730	c.699C>A	c.(697-699)atC>atA	p.I233I	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	268						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATGATGAAATCGAATTAAGGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	8		NA											NA				68007716		1823	4083	5906	SO:0001819	synonymous_variant			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218	79848	79848			26193	protein-coding gene	gene with protein product		611654			NA	15580290, 24360807	Standard	NM_024790	NM_024790	NA	Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.699C>A	8.37:g.68007716C>A		NA	A6ND63|Q70F00|Q8TBC1	37	CCDS43744.1																																																																																			CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379254.1		+	ENST00000262210.5	Silent	SNP	8 : 68007716 - 68007716 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	339	18
CTD-3074O7.11	0	broad.mit.edu	37	11	66282025	66282025	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr11:66282025C>T	ENST00000419755.3	+	4	497	c.419C>T	c.(418-420)gCt>gTt	p.A140V	BBS1_ENST00000537537.1_Missense_Mutation_p.L7F|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Missense_Mutation_p.A103V|BBS1_ENST00000455748.2_Missense_Mutation_p.A103V|BBS1_ENST00000318312.7_Missense_Mutation_p.A103V						NA											NA						CGGACCCCAGCTCTGGCACTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	127	126			NA	NA	11		NA											NA				66282025		2200	4295	6495	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000419755.3:c.419C>T	11.37:g.66282025C>T	ENSP00000398526:p.Ala140Val	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.736825|4.736825	0.89482|0.89482	.|.	.|.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483|ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994;ENST00000524705|ENST00000537537	D;D;D;D;D|D	0.89875|0.86497	-2.58;-2.58;-2.58;-2.58;-2.58|-2.13	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|.	.|.	.|.	.|.	D|D	0.89276|0.89276	0.6669|0.6669	L|L	0.48642|0.48642	1.525|1.525	0.35593|0.35593	D|D	0.807224|0.807224	D;D;D;D|.	0.89917|.	0.995;0.995;1.0;1.0|.	P;P;D;D|.	0.79108|.	0.814;0.861;0.992;0.992|.	D|D	0.92830|0.92830	0.6279|0.6279	9|7	0.56958|0.87932	D|D	0.05|0	.|.	16.4222|16.4222	0.83766|0.83766	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;103;103;140|.	E7EQH1;Q32MM9;Q8NFJ9;Q8NFJ9-2|.	.;.;BBS1_HUMAN;.|.	V|F	140;103;103;103;10|7	ENSP00000398526:A140V;ENSP00000317469:A103V;ENSP00000405764:A103V;ENSP00000377563:A103V;ENSP00000436927:A10V|ENSP00000439873:L7F	ENSP00000317469:A103V|ENSP00000439873:L7F	A|L	+|+	2|1	0|0	BBS1;CTD-3074O7.11|BBS1	66038601|66038601	1.000000|1.000000	0.71417|0.71417	0.870000|0.870000	0.34147|0.34147	0.516000|0.516000	0.34256|0.34256	7.073000|7.073000	0.76784|0.76784	2.540000|2.540000	0.85666|0.85666	0.558000|0.558000	0.71614|0.71614	GCT|CTC	CTD-3074O7.11-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395848.2		+	ENST00000419755.3	Missense_Mutation	SNP	11 : 66282025 - 66282025 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	494	244
CYP46A1	10858	broad.mit.edu	37	14	100184456	100184456	+	Missense_Mutation	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr14:100184456G>A	ENST00000554176.1	+	5	1180	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	CYP46A1_ENST00000261835.3_Missense_Mutation_p.V325M|CYP46A1_ENST00000423126.2_Missense_Mutation_p.V228M			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	325					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCCAGAGATCGTGGCAAGGTA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	82	89			NA	NA	14		NA											NA				100184456		2203	4300	6503	SO:0001583	missense			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530	10858	10858		Cytochrome P450s	2641	protein-coding gene	gene with protein product		604087	cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)	CYP46	NA	10377398	Standard		NM_006668	NA	Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000554176.1:c.514G>A	14.37:g.100184456G>A	ENSP00000450553:p.Val172Met	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.219|6.219	0.408545|0.408545	0.11812|0.11812	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	.|T;T;T;T	.|0.78816	.|-0.28;-1.21;-1.21;-1.21	3.06|3.06	2.1|2.1	0.27182|0.27182	.|.	.|0.493199	.|0.19596	.|N	.|0.110508	T|T	0.46698|0.46698	0.1406|0.1406	N|N	0.01679|0.01679	-0.765|-0.765	0.27819|0.27819	N|N	0.941878|0.941878	.|B;B	.|0.22480	.|0.005;0.07	.|B;B	.|0.17979	.|0.005;0.02	T|T	0.40664|0.40664	-0.9551|-0.9551	5|10	.|0.30078	.|T	.|0.28	.|.	6.7859|6.7859	0.23673|0.23673	0.0:0.0:0.6459:0.3541|0.0:0.0:0.6459:0.3541	.|.	.|172;325	.|Q8N2B0;Q9Y6A2	.|.;CP46A_HUMAN	H|M	311|325;228;172;78	.|ENSP00000261835:V325M;ENSP00000405779:V228M;ENSP00000450553:V172M;ENSP00000451602:V78M	.|ENSP00000261835:V325M	R|V	+|+	2|1	0|0	CYP46A1|CYP46A1	99254209|99254209	0.833000|0.833000	0.29383|0.29383	0.999000|0.999000	0.59377|0.59377	0.909000|0.909000	0.53808|0.53808	-0.091000|-0.091000	0.11146|0.11146	0.789000|0.789000	0.33779|0.33779	0.455000|0.455000	0.32223|0.32223	CGT|GTG	CYP46A1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000413816.1		+	ENST00000554176.1	Missense_Mutation	SNP	14 : 100184456 - 100184456 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	287	100
EMILIN3	90187	broad.mit.edu	37	20	39990921	39990921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr20:39990921C>A	ENST00000332312.3	-	4	1480	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	430						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TCCACACCTCCCTCGAGCATG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	84	83			NA	NA	20		NA											NA				39990921		2203	4300	6503	SO:0001587	stop_gained			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798	90187	90187		EMI domain containing	16123	protein-coding gene	gene with protein product	chromosome 20 open reading frame 130	608929	elastin microfibril interfacer 5	C20orf130, EMILIN5	NA	12221002	Standard	XM_029741	NM_052846	NA	Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1288G>T	20.37:g.39990921C>A	ENSP00000332806:p.Gly430*	NA	Q495S6|Q495S7|Q76KT4	37	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103116	0.56183	.	.	ENSG00000183798	ENST00000332312	.	.	.	4.82	3.63	0.41609	.	0.864121	0.10391	N	0.680425	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.7769	4.7858	0.13223	0.0:0.5954:0.2284:0.1762	.	.	.	.	X	430	.	.	G	-	1	0	EMILIN3	39424335	0.024000	0.19004	0.714000	0.30535	0.090000	0.18270	1.087000	0.30865	2.233000	0.73108	0.561000	0.74099	GGA	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106876.2		-	ENST00000332312.3	Nonsense_Mutation	SNP	20 : 39990921 - 39990921 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	661	143
EPB41L3	23136	broad.mit.edu	37	18	5423383	5423383	+	Missense_Mutation	SNP	C	C	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr18:5423383C>G	ENST00000341928.2	-	11	1673	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	EPB41L3_ENST00000342933.3_Missense_Mutation_p.D445H|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D445H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D445H|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D445H|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	445	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTACCTCCATCCAAGCTGCGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	131	145			NA	NA	18		NA											NA				5423383		2203	4300	6503	SO:0001583	missense			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397	23136	23136			3380	protein-coding gene	gene with protein product		605331			NA	9828140, 9892180	Standard	NM_012307	NM_012307	NA	Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1333G>C	18.37:g.5423383C>G	ENSP00000343158:p.Asp445His	NA	O95713|Q9BRP5	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133660	0.94517	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.85013	-1.92;-1.93;-1.92;-1.93	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.993	D	0.91626	0.5315	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	445;6;336;445;445	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	H	445;336;445;336;445;445	ENSP00000343158:D445H;ENSP00000441174:D445H;ENSP00000341138:D445H;ENSP00000382981:D445H	ENSP00000343158:D445H	D	-	1	0	EPB41L3	5413383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.788000	0.85771	2.894000	0.99253	0.591000	0.81541	GAT	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254424.1		-	ENST00000341928.2	Missense_Mutation	SNP	18 : 5423383 - 5423383 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	366	107
EPB41L5	57669	broad.mit.edu	37	2	120925059	120925059	+	Missense_Mutation	SNP	G	G	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr2:120925059G>T	ENST00000263713.5	+	23	2194	c.1980G>T	c.(1978-1980)atG>atT	p.M660I	EPB41L5_ENST00000443902.2_Missense_Mutation_p.M660I|EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000452780.1_Missense_Mutation_p.M660I	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	660						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CCACATCCATGATCACACCCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	151	156			NA	NA	2		NA											NA				120925059		2203	4300	6503	SO:0001583	missense			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109	57669	57669			19819	protein-coding gene	gene with protein product		611730			NA		Standard	NM_020909	NM_001184937	NA	Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1980G>T	2.37:g.120925059G>T	ENSP00000263713:p.Met660Ile	NA	Q7Z5S1|Q8IZ12|Q9H975	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	G	7.489	0.650342	0.14516	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	T;T;T	0.80738	-1.39;-1.41;-1.39	5.35	1.22	0.21188	.	0.511582	0.18284	N	0.145922	T	0.62829	0.2460	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.39722	-0.9600	10	0.16896	T	0.51	.	4.6239	0.12469	0.2748:0.1611:0.5641:0.0	.	660;660;660	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	I	660	ENSP00000263713:M660I;ENSP00000393856:M660I;ENSP00000390439:M660I	ENSP00000263713:M660I	M	+	3	0	EPB41L5	120641529	0.272000	0.24172	0.626000	0.29213	0.706000	0.40770	0.079000	0.14782	0.636000	0.30508	0.563000	0.77884	ATG	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254230.2		+	ENST00000263713.5	Missense_Mutation	SNP	2 : 120925059 - 120925059 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	726	34
FASN	2194	broad.mit.edu	37	17	80042916	80042916	+	Silent	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr17:80042916G>A	ENST00000306749.2	-	25	4622	c.4404C>T	c.(4402-4404)cgC>cgT	p.R1468R		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1468				NR -> T (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTACCGGAGGCGGTTCCCGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													13	14	14			NA	NA	17		NA											NA				80042916		2181	4257	6438	SO:0001819	synonymous_variant			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4404C>T	17.37:g.80042916G>A		NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1																																																																																			FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1		-	ENST00000306749.2	Silent	SNP	17 : 80042916 - 80042916 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	123	32
FBXO40	51725	broad.mit.edu	37	3	121340894	121340894	+	Silent	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr3:121340894C>T	ENST00000338040.4	+	3	1032	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	206					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TAGCCAAAACCAAAGAAGGGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	121	117			NA	NA	3		NA											NA				121340894		2203	4300	6503	SO:0001819	synonymous_variant			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833	51725	51725		F-boxes /  other	29816	protein-coding gene	gene with protein product		609107			NA	10574462	Standard	NM_016298	NM_016298	NA	Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.618C>T	3.37:g.121340894C>T		NA	B2RAX7|Q32M70|Q9ULM5	37	CCDS33835.1																																																																																			FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355158.1		+	ENST00000338040.4	Silent	SNP	3 : 121340894 - 121340894 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	246	73
FOXM1	2305	broad.mit.edu	37	12	2968343	2968343	+	Missense_Mutation	SNP	C	C	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr12:2968343C>G	ENST00000342628.2	-	10	1980	c.1867G>C	c.(1867-1869)Gcc>Ccc	p.A623P	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.A570P|FOXM1_ENST00000359843.3_Missense_Mutation_p.A585P	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	585					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGCTGGGAGGCAGGGTCAGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	48	46			NA	NA	12		NA											NA				2968343		2195	4289	6484	SO:0001583	missense			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206	2305	2305		Forkhead boxes	3818	protein-coding gene	gene with protein product	M-phase phosphoprotein 2	602341		FKHL16	NA	9032290, 9441747	Standard	NM_021953	NM_202002	NA	Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000342628.2:c.1867G>C	12.37:g.2968343C>G	ENSP00000342307:p.Ala623Pro	NA	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	37	CCDS8516.1	.	.	.	.	.	.	.	.	.	.	C	9.827	1.187398	0.21870	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.93366	-3.15;-3.21;-3.12	4.18	0.0918	0.14469	.	0.634660	0.15599	N	0.254034	D	0.92221	0.7533	L	0.60455	1.87	0.09310	N	1	P;D;D;D;D	0.59357	0.954;0.974;0.985;0.974;0.973	P;P;P;P;P	0.59221	0.548;0.649;0.809;0.649;0.854	T	0.82721	-0.0317	10	0.31617	T	0.26	.	1.421	0.02312	0.15:0.4095:0.1478:0.2927	.	569;585;570;585;623	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	P	623;570;585	ENSP00000342307:A623P;ENSP00000354492:A570P;ENSP00000352901:A585P	ENSP00000342307:A623P	A	-	1	0	FOXM1	2838604	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.021000	0.03615	0.124000	0.18369	0.561000	0.74099	GCC	FOXM1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398270.1		-	ENST00000342628.2	Missense_Mutation	SNP	12 : 2968343 - 2968343 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	298	102
GPR112	139378	broad.mit.edu	37	X	135477570	135477570	+	Missense_Mutation	SNP	C	C	T	rs137972430	byFrequency	TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chrX:135477570C>T	ENST00000394143.1	+	19	8393	c.8102C>T	c.(8101-8103)tCg>tTg	p.S2701L	GPR112_ENST00000287534.4_Missense_Mutation_p.S2454L|GPR112_ENST00000412101.1_Missense_Mutation_p.S2496L|GPR112_ENST00000394141.1_Missense_Mutation_p.S2496L|GPR112_ENST00000370652.1_Missense_Mutation_p.S2701L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2701	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGATGGAATTCGTCAGGCTGT	0.373		NA											C	9	0.01	0.02	0.0036	1659	NA	1	,	,	NA	2e-04	NA	NA	NA	0.0069	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	LEU/SER	41,3794		0,32,9,1600,562	114	100	105		8102	4.6	0.4	X	dbSNP_134	105	0,6728		0,0,0,2428,1872	yes	missense	GPR112	NM_153834.3	145	0,32,9,4028,2434	TT,TC,T,CC,C	NA	0.0,1.0691,0.3881	possibly-damaging	2701/3081	135477570	41,10522	2203	4300	6503	SO:0001583	missense			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920	139378	139378		-, GPCR / Class B : Orphans	18992	protein-coding gene	gene with protein product					NA	12435584	Standard		XM_005262367	NA	Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8102C>T	X.37:g.135477570C>T	ENSP00000377699:p.Ser2701Leu	NA	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	37	CCDS35409.1	9	0.0054249547920434	3	0.006224066390041493	0	0.0	0	0.0	0	0.0	C	12.35	1.912882	0.33815	0.010691	0.0	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.44	4.58	0.56647	GPS domain (3);	.	.	.	.	T	0.73575	0.3604	M	0.89095	3.005	0.80722	P	0.0	D;P	0.57257	0.979;0.761	B;P	0.48524	0.409;0.58	D	0.85526	0.1206	8	0.72032	D	0.01	.	13.0109	0.58731	0.0:0.9193:0.0:0.0807	.	2496;2701	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	2701;2701;2496;2454;2496	ENSP00000377699:S2701L;ENSP00000359686:S2701L;ENSP00000416526:S2496L;ENSP00000287534:S2454L;ENSP00000377697:S2496L	ENSP00000287534:S2454L	S	+	2	0	GPR112	135305236	0.000000	0.05858	0.366000	0.25914	0.961000	0.63080	0.323000	0.19593	1.071000	0.40834	0.538000	0.68166	TCG	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286639.1		+	ENST00000394143.1	Missense_Mutation	SNP	X : 135477570 - 135477570 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	267	91
GRID2	2895	broad.mit.edu	37	4	94159636	94159636	+	Silent	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr4:94159636C>A	ENST00000282020.4	+	8	1498	c.1240C>A	c.(1240-1242)Cga>Aga	p.R414R	GRID2_ENST00000510992.1_Silent_p.R319R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	414					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGAGGTGTTCGAAAAGTAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	135	132			NA	NA	4		NA											NA				94159636		2203	4299	6502	SO:0001819	synonymous_variant			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208	2895	2895		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4576	protein-coding gene	gene with protein product		602368			NA	9465309	Standard		NM_001510	NA	Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1240C>A	4.37:g.94159636C>A		NA	Q4KKU9|Q4KKV0|Q59FZ1	37	CCDS3637.1																																																																																			GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253588.2		+	ENST00000282020.4	Silent	SNP	4 : 94159636 - 94159636 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	664	31
KCNA4	3739	broad.mit.edu	37	11	30032957	30032957	+	Silent	SNP	C	C	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr11:30032957C>G	ENST00000328224.6	-	2	2502	c.1269G>C	c.(1267-1269)ctG>ctC	p.L423L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	423						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTTGCTGGGCCAGGTCAGTGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	11		NA											NA				30032957		2078	4238	6316	SO:0001819	synonymous_variant			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255	3739	3739		Potassium channels, Voltage-gated ion channels / Potassium channels	6222	protein-coding gene	gene with protein product		176266	potassium voltage-gated channel, shaker-related subfamily, member 4-like	KCNA4L	NA	2263489, 16382104	Standard	NM_002233	NM_002233	NA	Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1269G>C	11.37:g.30032957C>G		NA		37	CCDS41629.1																																																																																			KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388074.2		-	ENST00000328224.6	Silent	SNP	11 : 30032957 - 30032957 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	316	110
KIFC3	3801	broad.mit.edu	37	16	57798067	57798067	+	Silent	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr16:57798067C>T	ENST00000543930.1	-	10	1739	c.1179G>A	c.(1177-1179)acG>acA	p.T393T	KIFC3_ENST00000379655.4_Silent_p.T535T|KIFC3_ENST00000465878.2_Silent_p.T396T|KIFC3_ENST00000421376.2_Silent_p.T396T|KIFC3_ENST00000445690.2_Silent_p.T535T|KIFC3_ENST00000562903.1_Silent_p.T396T|KIFC3_ENST00000539578.1_Silent_p.T477T|KIFC3_ENST00000540079.2_Silent_p.T433T|KIFC3_ENST00000541240.1_Silent_p.T557T			Q9BVG8	KIFC3_HUMAN	kinesin family member C3	535					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCATCGTGTACGTCTTGCCGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									,,	0,4396		0,0,2198	75	67	69		1188,1605,1605	-9.4	0.5	16		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	,,	0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	396/688,535/827,535/834	57798067	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859	3801	3801		Kinesins	6326	protein-coding gene	gene with protein product		604535			NA	9782090	Standard	NM_005550	NM_001130099	NA	Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000543930.1:c.1179G>A	16.37:g.57798067C>T		NA	O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	37																																																																																				KIFC3-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432168.1		-	ENST00000543930.1	Silent	SNP	16 : 57798067 - 57798067 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	308	101
KNTC1	9735	broad.mit.edu	37	12	123019280	123019280	+	Missense_Mutation	SNP	G	G	C			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr12:123019280G>C	ENST00000450485.2	+	3	345	c.199G>C	c.(199-201)Gtg>Ctg	p.V67L	KNTC1_ENST00000333479.7_Missense_Mutation_p.V67L			P50748	KNTC1_HUMAN	kinetochore associated 1	67					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CGACCAATCAGTGATATTGCT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	149	154			NA	NA	12		NA											NA				123019280		1879	4114	5993	SO:0001583	missense				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445	9735	9735			17255	protein-coding gene	gene with protein product	rough deal homolog (Drosophila)	607363			NA	11146660, 11590237	Standard		NM_014708	NA	Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000450485.2:c.199G>C	12.37:g.123019280G>C	ENSP00000397992:p.Val67Leu	NA	A7E2C4	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.018469	0.75275	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.18016	2.24;2.24	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.78314	0.978;0.991	T	0.01819	-1.1267	10	0.56958	D	0.05	-17.8528	19.5419	0.95277	0.0:0.0:1.0:0.0	.	67;67	E7ES84;P50748	.;KNTC1_HUMAN	L	67	ENSP00000397992:V67L;ENSP00000328236:V67L	ENSP00000328236:V67L	V	+	1	0	KNTC1	121585233	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.436000	0.59948	2.714000	0.92807	0.650000	0.86243	GTG	KNTC1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396109.2		+	ENST00000450485.2	Missense_Mutation	SNP	12 : 123019280 - 123019280 C PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	108	32
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	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-L1-A7W4-Tumor-SM-5KWXS	554	263
LTV1	84946	broad.mit.edu	37	6	144183259	144183259	+	Silent	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr6:144183259C>T	ENST00000367576.5	+	8	1076	c.942C>T	c.(940-942)acC>acT	p.T314T		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	314										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AATTGAATACCCTTGAACCCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	86	85	85		942	0.1	1	6		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LTV1	NM_032860.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		314/476	144183259	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521	84946	84946			21173	protein-coding gene	gene with protein product			chromosome 6 open reading frame 93, LTV1 homolog (S. cerevisiae)	C6orf93	NA		Standard	NM_032860	NM_032860	NA	Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.942C>T	6.37:g.144183259C>T		NA	Q96JX8	37	CCDS5201.1																																																																																			LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042532.1		+	ENST00000367576.5	Silent	SNP	6 : 144183259 - 144183259 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	335	120
MAML3	55534	broad.mit.edu	37	4	140640637	140640637	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr4:140640637C>T	ENST00000509479.2	-	5	4113	c.3257G>A	c.(3256-3258)cGg>cAg	p.R1086Q	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1082					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGGGGCATTCCGCTCATAGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,GLN/ARG	1,4373		0,1,2186	53	59	57		,,3257	4.9	1	4		57	0,8586		0,0,4293	no	intron,intron,missense	MGST2,MAML3	NM_001204366.1,NM_001204367.1,NM_018717.4	,,43	0,1,6479	TT,TC,CC	NA	0.0,0.0229,0.0077	,,probably-damaging	,,1086/1139	140640637	1,12959	2187	4293	6480	SO:0001583	missense			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782	55534	55534			16272	protein-coding gene	gene with protein product	mastermind (drosophila)-like 3	608991	trinucleotide repeat containing 3	TNRC3	NA	12370315, 12386158	Standard		NM_018717	NA	Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3257G>A	4.37:g.140640637C>T	ENSP00000421180:p.Arg1086Gln	NA	B2RNU9|B3KVV7	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002532	0.74932	2.29E-4	0.0	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.33654	1.4	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.63581	0.2523	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	T	0.68637	-0.5356	10	0.62326	D	0.03	.	18.4915	0.90849	0.0:1.0:0.0:0.0	.	1086;1082	E7EVW8;Q96JK9	.;MAML3_HUMAN	Q	1086;393	ENSP00000421180:R1086Q	ENSP00000421180:R1086Q	R	-	2	0	MAML3	140860087	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	6.290000	0.72712	2.431000	0.82371	0.591000	0.81541	CGG	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364934.2		-	ENST00000509479.2	Missense_Mutation	SNP	4 : 140640637 - 140640637 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	246	77
MAP10	54627	broad.mit.edu	37	1	232943216	232943216	+	Missense_Mutation	SNP	A	A	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr1:232943216A>G	ENST00000418460.1	+	1	2574	c.2447A>G	c.(2446-2448)aAt>aGt	p.N816S		NM_019090.2	NP_061963.2			microtubule-associated protein 10	NA											NA						ACCACAGATAATGACATTCTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	61	60			NA	NA	1		NA											NA				232943216		1848	4089	5937	SO:0001583	missense			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916	54627	54627			29265	protein-coding gene	gene with protein product	microtubule regulator 120 KDa		KIAA1383	KIAA1383	NA	23264731	Standard	NM_019090	NM_019090	NA	Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2447A>G	1.37:g.232943216A>G	ENSP00000403208:p.Asn816Ser	NA		37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	A	1.652	-0.513838	0.04200	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.7	0.0402	0.14208	.	2.250330	0.02612	U	0.102239	T	0.31606	0.0802	L	0.34521	1.04	0.09310	N	1	B	0.22003	0.063	B	0.21151	0.033	T	0.11941	-1.0567	9	0.15952	T	0.53	-0.1388	7.2746	0.26277	0.4092:0.455:0.1359:0.0	.	674	Q9P2G4	K1383_HUMAN	S	816	.	ENSP00000403208:N816S	N	+	2	0	KIAA1383	231009839	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.273000	0.08548	0.041000	0.15688	0.482000	0.46254	AAT	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092317.3		+	ENST00000418460.1	Missense_Mutation	SNP	1 : 232943216 - 232943216 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	299	95
OBSCN	84033	broad.mit.edu	37	1	228491558	228491558	+	Missense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr1:228491558C>A	ENST00000570156.2	+	52	13995	c.13921C>A	c.(13921-13923)Cgt>Agt	p.R4641S	OBSCN_ENST00000366707.4_Missense_Mutation_p.R1331S|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3684	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATTCGTGGCCTGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,1752		0,0,876	168	138	147		,	1.1	0	1		147	1,3981		0,1,1990	no	intron,intron	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,2866	AA,AC,CC	NA	0.0251,0.0,0.0174	,	,	228491558	1,5733	876	1991	2867	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.13921C>A	1.37:g.228491558C>A	ENSP00000455507:p.Arg4641Ser	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731181	0.48939	0.0	2.51E-4	ENSG00000154358	ENST00000366707	T	0.65732	-0.17	5.08	1.11	0.20524	.	.	.	.	.	T	0.31575	0.0801	.	.	.	0.20307	N	0.999911	.	.	.	.	.	.	T	0.22208	-1.0223	6	0.06494	T	0.89	.	5.001	0.14264	0.1314:0.5072:0.0:0.3614	.	.	.	.	S	1331	ENSP00000355668:R1331S	ENSP00000355668:R1331S	R	+	1	0	OBSCN	226558181	0.000000	0.05858	0.018000	0.16275	0.235000	0.25334	-0.227000	0.09126	0.045000	0.15804	0.561000	0.74099	CGT	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228491558 - 228491558 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	529	32
PCDHB12	56124	broad.mit.edu	37	5	140590215	140590215	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr5:140590215C>T	ENST00000239450.2	+	1	1925	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A242V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	579	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCCTGGGCGGCCGAGCCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	34	31			NA	NA	5		NA											NA				140590215		2175	4270	6445	SO:0001583	missense			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328	56124	56124		Cadherins / Protocadherins : Clustered	8683	other	protocadherin		606338			NA	10380929	Standard	NM_018932	NM_018932	NA	Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1736C>T	5.37:g.140590215C>T	ENSP00000239450:p.Ala579Val	NA		37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540606	0.45280	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.20463	2.07;2.07	3.4	1.33	0.21861	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.16471	0.0396	L	0.45744	1.44	0.09310	N	1	B	0.32188	0.359	B	0.29524	0.103	T	0.18777	-1.0326	9	0.56958	D	0.05	.	6.081	0.19940	0.0:0.6387:0.1756:0.1857	.	579	Q9Y5F1	PCDBC_HUMAN	V	242;579;199	ENSP00000440199:A242V;ENSP00000239450:A579V	ENSP00000239450:A579V	A	+	2	0	PCDHB12	140570399	0.000000	0.05858	0.139000	0.22197	0.985000	0.73830	0.884000	0.28214	1.626000	0.50381	0.479000	0.44913	GCG	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251815.2		+	ENST00000239450.2	Missense_Mutation	SNP	5 : 140590215 - 140590215 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	758	179
PLEKHH2	130271	broad.mit.edu	37	2	43906059	43906059	+	Missense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr2:43906059C>A	ENST00000282406.4	+	3	291	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	61						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAAGCTTTTCAACAGGTAGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	77	74			NA	NA	2		NA											NA				43906059		2203	4300	6503	SO:0001583	missense			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527	130271	130271		Pleckstrin homology (PH) domain containing	30506	protein-coding gene	gene with protein product		612723			NA		Standard	NM_172069	NM_172069	NA	Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.181C>A	2.37:g.43906059C>A	ENSP00000282406:p.Gln61Lys	NA	Q5JPJ6|Q6P4Q1|Q8N3Q3	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850837	0.32699	.	.	ENSG00000152527	ENST00000282406	T	0.32023	1.47	4.82	4.82	0.62117	.	0.191801	0.46442	D	0.000298	T	0.23926	0.0579	L	0.28115	0.83	0.43740	D	0.996235	B;B	0.28258	0.024;0.205	B;B	0.32289	0.013;0.143	T	0.05037	-1.0910	10	0.21014	T	0.42	-5.0416	14.931	0.70914	0.0:1.0:0.0:0.0	.	61;61	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	K	61	ENSP00000282406:Q61K	ENSP00000282406:Q61K	Q	+	1	0	PLEKHH2	43759563	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.410000	0.59774	2.504000	0.84457	0.655000	0.94253	CAA	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250537.1		+	ENST00000282406.4	Missense_Mutation	SNP	2 : 43906059 - 43906059 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	718	37
PRKCQ	5588	broad.mit.edu	37	10	6540440	6540440	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr10:6540440C>T	ENST00000263125.5	-	5	559	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	PRKCQ_ENST00000539722.1_Missense_Mutation_p.V29I|PRKCQ_ENST00000397176.2_Missense_Mutation_p.V154I	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	154					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACGTGGTGGACCTTTGCCTGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(50;572 1126 10530 25349 30594)							NA				0													305	239	261			NA	NA	10		NA											NA				6540440		2203	4300	6503	SO:0001583	missense			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	5588	5588	2.7.11.1		9410	protein-coding gene	gene with protein product		600448			NA	8444877	Standard	NM_006257	NM_001282645	NA	Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.460G>A	10.37:g.6540440C>T	ENSP00000263125:p.Val154Ile	NA	Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	4.169	0.029922	0.08101	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	D;D;D	0.84516	-1.86;-1.86;-1.86	5.62	4.71	0.59529	.	0.133146	0.50627	D	0.000110	T	0.68118	0.2966	N	0.10874	0.06	0.51767	D	0.999934	B;B;B	0.15719	0.003;0.014;0.005	B;B;B	0.18263	0.014;0.021;0.007	T	0.59621	-0.7420	10	0.16420	T	0.52	.	7.4127	0.27025	0.1643:0.7295:0.0:0.1061	.	29;154;154	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	I	154;154;29	ENSP00000263125:V154I;ENSP00000380361:V154I;ENSP00000441752:V29I	ENSP00000263125:V154I	V	-	1	0	PRKCQ	6580446	1.000000	0.71417	0.998000	0.56505	0.150000	0.21749	2.528000	0.45624	1.346000	0.45694	-0.181000	0.13052	GTC	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046665.1		-	ENST00000263125.5	Missense_Mutation	SNP	10 : 6540440 - 6540440 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	395	209
PSMF1	9491	broad.mit.edu	37	20	1108114	1108114	+	Missense_Mutation	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr20:1108114G>A	ENST00000335877.6	+	3	504	c.328G>A	c.(328-330)Gat>Aat	p.D110N	PSMF1_ENST00000246015.4_Missense_Mutation_p.D110N|PSMF1_ENST00000333082.3_Missense_Mutation_p.D110N|PSMF1_ENST00000381898.4_Missense_Mutation_p.D22N|PSMF1_ENST00000438768.2_Missense_Mutation_p.D110N	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GAACTTGGATGATTATATCGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	132	132			NA	NA	20		NA											NA				1108114		2203	4300	6503	SO:0001583	missense			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818	9491	9491		Proteasome (prosome, macropain) subunits	9571	protein-coding gene	gene with protein product	proteasome inhibitor hP131 subunit				NA	10363639	Standard	NM_178578	NM_006814	NA	Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.328G>A	20.37:g.1108114G>A	ENSP00000338039:p.Asp110Asn	NA	A0AVQ9|D3DVW3|Q9H4I1	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132359	0.77662	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.64	5.64	0.86602	.	0.052705	0.85682	D	0.000000	T	0.61961	0.2389	M	0.61703	1.905	0.50039	D	0.999843	D;P;P;P	0.67145	0.996;0.846;0.635;0.554	P;B;B;B	0.57502	0.822;0.42;0.317;0.301	T	0.62039	-0.6938	10	0.59425	D	0.04	-10.0177	16.7314	0.85436	0.0:0.0:1.0:0.0	.	110;22;110;110	E7ER20;F5H4Z3;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	N	110;22;110;22;110;110;110	ENSP00000327704:D110N;ENSP00000371323:D22N;ENSP00000371324:D110N;ENSP00000246015:D110N;ENSP00000338039:D110N;ENSP00000401404:D110N	ENSP00000246015:D110N	D	+	1	0	PSMF1	1056114	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.749000	0.62155	2.937000	0.99478	0.650000	0.86243	GAT	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077504.2		+	ENST00000335877.6	Missense_Mutation	SNP	20 : 1108114 - 1108114 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	619	199
PTAFR	5724	broad.mit.edu	37	1	28477465	28477465	+	Missense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr1:28477465C>A	ENST00000373857.3	-	2	702	c.68G>T	c.(67-69)aGc>aTc	p.S23I	PTAFR_ENST00000305392.3_Missense_Mutation_p.S23I|PTAFR_ENST00000539896.1_Missense_Mutation_p.S23I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	23					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGATGATGCTGTAAACAAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	71	74			NA	NA	1		NA											NA				28477465		2203	4300	6503	SO:0001583	missense			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403	5724	5724		GPCR / Class A : Platelet-activating factor receptors	9582	protein-coding gene	gene with protein product		173393			NA	1322356	Standard	NM_000952	NM_001164721	NA	Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.68G>T	1.37:g.28477465C>A	ENSP00000362965:p.Ser23Ile	NA	A3KMC8|A8K2H5	37	CCDS318.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688280	0.48097	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.37058	1.22;1.22;1.22	5.71	4.78	0.61160	.	0.084158	0.85682	D	0.000000	T	0.31009	0.0783	L	0.39633	1.23	0.43259	D	0.99519	B	0.22346	0.068	B	0.24394	0.053	T	0.06862	-1.0803	10	0.13853	T	0.58	.	16.5201	0.84311	0.0:0.8691:0.1309:0.0	.	23	P25105	PTAFR_HUMAN	I	23	ENSP00000362965:S23I;ENSP00000442658:S23I;ENSP00000301974:S23I	ENSP00000301974:S23I	S	-	2	0	PTAFR	28350052	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.968000	0.56809	1.377000	0.46286	0.655000	0.94253	AGC	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011258.1		-	ENST00000373857.3	Missense_Mutation	SNP	1 : 28477465 - 28477465 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	169	52
PXDC1	221749	broad.mit.edu	37	6	3737358	3737358	+	Missense_Mutation	SNP	C	C	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr6:3737358C>G	ENST00000380283.4	-	3	915	c.421G>C	c.(421-423)Gtg>Ctg	p.V141L	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	141					cell communication		phosphatidylinositol binding				NA						ATTTTATGCACATTATCATTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	179	180			NA	NA	6		NA											NA				3737358		2203	4300	6503	SO:0001583	missense			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994	221749	221749			21361	protein-coding gene	gene with protein product			chromosome 6 open reading frame 145	C6orf145	NA		Standard	NM_183373	NM_183373	NA	Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.421G>C	6.37:g.3737358C>G	ENSP00000369636:p.Val141Leu	NA	A8K0N3|Q6PGP0|Q86XB7	37	CCDS4486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.204837|3.204837	0.58234|0.58234	.|.	.|.	ENSG00000168994|ENSG00000168994	ENST00000380277|ENST00000380283	.|T	.|0.67523	.|-0.27	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Phox homologous domain (2);	.|0.055251	.|0.64402	.|D	.|0.000001	T|T	0.51176|0.51176	0.1659|0.1659	L|L	0.56769|0.56769	1.78|1.78	0.54753|0.54753	D|D	0.999982|0.999982	.|P	.|0.43431	.|0.807	.|B	.|0.35182	.|0.197	T|T	0.61946|0.61946	-0.6958|-0.6958	5|10	.|0.51188	.|T	.|0.08	-32.5315|-32.5315	17.2245|17.2245	0.86965|0.86965	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141	.|Q5TGL8	.|CF145_HUMAN	I|L	88|141	.|ENSP00000369636:V141L	.|ENSP00000369636:V141L	M|V	-|-	3|1	0|0	C6orf145|C6orf145	3682357|3682357	1.000000|1.000000	0.71417|0.71417	0.452000|0.452000	0.26994|0.26994	0.986000|0.986000	0.74619|0.74619	5.065000|5.065000	0.64344|0.64344	2.432000|2.432000	0.82394|0.82394	0.561000|0.561000	0.74099|0.74099	ATG|GTG	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039688.1		-	ENST00000380283.4	Missense_Mutation	SNP	6 : 3737358 - 3737358 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	507	225
SF1	7536	broad.mit.edu	37	11	64533530	64533530	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr11:64533530C>T	ENST00000433274.2	-	13	1910	c.1602G>A	c.(1600-1602)atG>atA	p.M534I	SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000377390.3_Missense_Mutation_p.M560I|SF1_ENST00000422298.2_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.M560I|SF1_ENST00000227503.9_Intron	NM_001178031.1	NP_001171502.1	Q15637	SF01_HUMAN	splicing factor 1	560	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTTGCCTTGCATCTGAGGGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	34	31			NA	NA	11		NA											NA				64533530		2160	4267	6427	SO:0001583	missense			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066	7536	7536		Zinc fingers, CCHC domain containing	12950	protein-coding gene	gene with protein product		601516	zinc finger protein 162	ZNF162	NA	7912130, 9573336	Standard	NM_004630	NM_201997	NA	Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000433274.2:c.1602G>A	11.37:g.64533530C>T	ENSP00000396793:p.Met534Ile	NA	Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	37	CCDS53660.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.20|11.20|11.20	1.568368|1.568368|1.568368	0.28003|0.28003|0.28003	.|.|.	.|.|.	ENSG00000168066|ENSG00000168066|ENSG00000168066	ENST00000486867|ENST00000413725|ENST00000377390;ENST00000334944;ENST00000433274	T|.|T;T;T	0.53206|.|0.44482	0.63|.|0.92;0.96;0.93	5.3|5.3|5.3	5.3|5.3|5.3	0.74995|0.74995|0.74995	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.26919|0.26919|0.26919	0.0659|0.0659|0.0659	N|N|N	0.12182|0.12182|0.12182	0.205|0.205|0.205	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B	.|.|0.14012	.|.|0.005;0.009	.|.|B;B	.|.|0.06405	.|.|0.001;0.002	T|T|T	0.07539|0.07539|0.07539	-1.0767|-1.0767|-1.0767	7|5|9	0.87932|.|0.66056	D|.|D	0|.|0.02	.|.|.	12.2212|12.2212|12.2212	0.54435|0.54435|0.54435	0.0:0.8282:0.1718:0.0|0.0:0.8282:0.1718:0.0|0.0:0.8282:0.1718:0.0	.|.|.	.|.|560;560	.|.|Q15637;Q15637-2	.|.|SF01_HUMAN;.	T|Y|I	280|130|560;560;534	ENSP00000419062:A280T|.|ENSP00000366607:M560I;ENSP00000334414:M560I;ENSP00000396793:M534I	ENSP00000419062:A280T|.|ENSP00000334414:M560I	A|C|M	-|-|-	1|2|3	0|0|0	SF1|SF1|SF1	64290106|64290106|64290106	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	2.200000|2.200000|2.200000	0.42724|0.42724|0.42724	2.488000|2.488000|2.488000	0.83962|0.83962|0.83962	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|TGC|ATG	SF1-016	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157360.4		-	ENST00000433274.2	Missense_Mutation	SNP	11 : 64533530 - 64533530 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	225	72
SHROOM2	357	broad.mit.edu	37	X	9900646	9900646	+	Missense_Mutation	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chrX:9900646G>A	ENST00000380913.3	+	6	3413	c.3323G>A	c.(3322-3324)cGc>cAc	p.R1108H	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1108					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TATGTGGCCCGCCTGTCCCTC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	44	46			NA	NA	X		NA											NA				9900646		2203	4300	6503	SO:0001583	missense			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950	357	357			630	protein-coding gene	gene with protein product		300103	apical protein, Xenopus laevis-like, apical protein-like (Xenopus laevis)	APXL	NA	7795590, 16615870	Standard	NM_001649	NM_001649	NA	Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3323G>A	X.37:g.9900646G>A	ENSP00000370299:p.Arg1108His	NA	B9EIQ7	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	7.442	0.640962	0.14386	.	.	ENSG00000146950	ENST00000380913	T	0.13538	2.58	3.55	-2.07	0.07276	.	6.318130	0.00166	N	0.000002	T	0.06005	0.0156	N	0.08118	0	0.09310	N	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.23261	-1.0193	10	0.13470	T	0.59	.	2.4948	0.04619	0.4622:0.1186:0.2983:0.1209	.	1108	Q13796	SHRM2_HUMAN	H	1108	ENSP00000370299:R1108H	ENSP00000370299:R1108H	R	+	2	0	SHROOM2	9860646	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.793000	0.04589	-0.380000	0.07894	-0.197000	0.12766	CGC	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055721.1		+	ENST00000380913.3	Missense_Mutation	SNP	X : 9900646 - 9900646 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	123	79
SLC39A12	221074	broad.mit.edu	37	10	18242333	18242333	+	Missense_Mutation	SNP	C	C	T	rs142948678		TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr10:18242333C>T	ENST00000377371.3	+	2	326	c.128C>T	c.(127-129)cCg>cTg	p.P43L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.P43L|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377369.2_Missense_Mutation_p.P43L			Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	43					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCAGGCCAACCGGCAGACCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	LEU/PRO,LEU/PRO	0,4406		0,0,2203	96	92	93		128,128	3.7	0	10	dbSNP_134	93	2,8598	819.2+/-406.8	0,2,4298	no	missense,missense	SLC39A12	NM_001145195.1,NM_152725.3	98,98	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	benign,benign	43/692,43/655	18242333	2,13004	2203	4300	6503	SO:0001583	missense				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482	221074	221074		Solute carriers	20860	protein-coding gene	gene with protein product		608734	solute carrier family 39 (metal ion transporter), member 12		NA	12659941	Standard	NM_152725	NM_152725	NA	Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377371.3:c.128C>T	10.37:g.18242333C>T	ENSP00000366588:p.Pro43Leu	NA	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	37		.	.	.	.	.	.	.	.	.	.	T	0.677	-0.799759	0.02841	0.0	2.33E-4	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.19105	2.17;2.17;2.17	6.08	3.71	0.42584	.	1.614220	0.03337	N	0.194234	T	0.04092	0.0114	N	0.00069	-2.28	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47522	-0.9111	10	0.02654	T	1	0.5449	6.6085	0.22739	0.0:0.1329:0.1294:0.7378	.	43;43;43	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	43	ENSP00000366586:P43L;ENSP00000366591:P43L;ENSP00000366588:P43L	ENSP00000366586:P43L	P	+	2	0	SLC39A12	18282339	0.668000	0.27493	0.002000	0.10522	0.019000	0.09904	1.441000	0.35035	0.165000	0.19558	-0.982000	0.02568	CCG	SLC39A12-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000047060.1		+	ENST00000377371.3	Missense_Mutation	SNP	10 : 18242333 - 18242333 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	225	70
SLC7A4	6545	broad.mit.edu	37	22	21384482	21384482	+	Silent	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr22:21384482G>A	ENST00000382932.2	-	3	1208	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	SLC7A4_ENST00000403586.1_Silent_p.L381L	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	381					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAGTGCCAGGAAGGCCGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	41	40			NA	NA	22		NA											NA				21384482		2203	4300	6503	SO:0001819	synonymous_variant			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960	6545	6545		Solute carriers	11062	protein-coding gene	gene with protein product		603752	solute carrier family 7 (cationic amino acid transporter, y+ system), member 4, solute carrier family 7 (orphan transporter), member 4		NA	9598310, 11665818	Standard	NM_004173	NM_004173	NA	Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1141C>T	22.37:g.21384482G>A		NA	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	37	CCDS33608.1																																																																																			SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320467.1		-	ENST00000382932.2	Silent	SNP	22 : 21384482 - 21384482 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	110	34
SORCS1	114815	broad.mit.edu	37	10	108447972	108447972	+	Missense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr10:108447972C>A	ENST00000263054.6	-	10	1545	c.1538G>T	c.(1537-1539)gGg>gTg	p.G513V	SORCS1_ENST00000369698.1_Missense_Mutation_p.G48V|SORCS1_ENST00000344440.6_Missense_Mutation_p.G513V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	513						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACGGGGTCCCCCCTTAGATC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	100			NA	NA	10		NA											NA				108447972		2203	4300	6503	SO:0001583	missense			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018	114815	114815			16697	protein-coding gene	gene with protein product		606283			NA	11499680	Standard	NM_052918	NM_001206570	NA	Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1538G>T	10.37:g.108447972C>A	ENSP00000263054:p.Gly513Val	NA	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110428	0.94292	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.40476	1.03;1.03;1.03	6.17	6.17	0.99709	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.77466	-0.2577	9	.	.	.	-24.1385	20.8794	0.99867	0.0:1.0:0.0:0.0	.	513;513;513;513;513	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	48;513;513	ENSP00000358712:G48V;ENSP00000263054:G513V;ENSP00000345964:G513V	.	G	-	2	0	SORCS1	108437962	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	GGG	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050232.4		-	ENST00000263054.6	Missense_Mutation	SNP	10 : 108447972 - 108447972 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	435	114
STAT1	6772	broad.mit.edu	37	2	191862950	191862950	+	Missense_Mutation	SNP	T	T	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr2:191862950T>A	ENST00000392323.2	-	9	1043	c.632A>T	c.(631-633)aAg>aTg	p.K211M	STAT1_ENST00000392322.3_Missense_Mutation_p.K209M|STAT1_ENST00000361099.3_Missense_Mutation_p.K209M|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000409465.1_Missense_Mutation_p.K209M			P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	209					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TACCTTTCTCTTATTGTCAAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	132	134			NA	NA	2		NA											NA				191862950		2202	4297	6499	SO:0001583	missense				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415	6772	6772		SH2 domain containing	11362	protein-coding gene	gene with protein product	transcription factor ISGF-3 components p91/p84	600555	signal transducer and activator of transcription 1, 91kD		NA	7885841	Standard	NM_007315	NM_139266	NA	Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000392323.2:c.632A>T	2.37:g.191862950T>A	ENSP00000376137:p.Lys211Met	NA	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	37		.	.	.	.	.	.	.	.	.	.	T	10.64	1.407534	0.25378	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	4.89	4.89	0.63831	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.043563	0.85682	D	0.000000	T	0.51787	0.1695	M	0.67569	2.06	0.80722	D	1	B;B	0.29253	0.239;0.202	B;B	0.32805	0.153;0.142	T	0.49173	-0.8967	10	0.23302	T	0.38	-38.7538	6.6173	0.22784	0.1386:0.077:0.0:0.7844	.	209;209	P42224-2;P42224	.;STAT1_HUMAN	M	209;209;209;211;117	ENSP00000354394:K209M;ENSP00000386244:K209M;ENSP00000376136:K209M;ENSP00000376137:K211M	ENSP00000354394:K209M	K	-	2	0	STAT1	191571195	1.000000	0.71417	0.992000	0.48379	0.679000	0.39708	3.548000	0.53670	2.052000	0.61016	0.533000	0.62120	AAG	STAT1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257868.2		-	ENST00000392323.2	Missense_Mutation	SNP	2 : 191862950 - 191862950 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	429	119
SYTL2	54843	broad.mit.edu	37	11	85436058	85436058	+	Missense_Mutation	SNP	G	G	C			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr11:85436058G>C	ENST00000525423.1	-	1	3013	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S481C|SYTL2_ENST00000359152.5_Missense_Mutation_p.S1005C|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGCTAAATAAGATCCAACTTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	90	92			NA	NA	11		NA											NA				85436058		2203	4299	6502	SO:0001583	missense			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501	54843	54843			15585	protein-coding gene	gene with protein product	chromosome 11 synaptotagmin, breast cancer-associated antigen SGA-72M, protein phosphatase 1, regulatory subunit 151	612880			NA	10997877	Standard	NM_206927	XM_005274057	NA	Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000525423.1:c.1442C>G	11.37:g.85436058G>C	ENSP00000432694:p.Ser481Cys	NA	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	37	CCDS31650.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990551	0.18966	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.34072	1.39;1.38;1.38	5.56	3.66	0.41972	.	0.284160	0.26404	N	0.024573	T	0.40119	0.1104	L	0.29908	0.895	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65874	0.939;0.939;0.939	T	0.08848	-1.0702	9	.	.	.	-4.2664	7.3171	0.26507	0.0854:0.0:0.7478:0.1669	.	481;481;481	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	C	1005;481;481	ENSP00000352065:S1005C;ENSP00000346576:S481C;ENSP00000432694:S481C	.	S	-	2	0	SYTL2	85113706	0.002000	0.14202	0.021000	0.16686	0.047000	0.14425	1.185000	0.32065	1.578000	0.49821	0.655000	0.94253	TCT	SYTL2-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392186.1		-	ENST00000525423.1	Missense_Mutation	SNP	11 : 85436058 - 85436058 C PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	489	178
TMEFF1	8577	broad.mit.edu	37	9	103338824	103338824	+	Missense_Mutation	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr9:103338824G>A	ENST00000374879.4	+	10	1517	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.T325T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.R323H	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1	NA										NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AATAGAGGACGTCGACAGAAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	142	145			NA	NA	9		NA											NA				103338824		2203	4300	6503	SO:0001583	missense			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697	8577	8577			11866	protein-coding gene	gene with protein product	tomoregulin-1, cancer/testis antigen family 120, member 1	603421		C9orf2	NA	9730596	Standard	NM_003692	NM_003692	NA	Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.1085G>A	9.37:g.103338824G>A	ENSP00000364013:p.Arg362His	NA		37	CCDS6750.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917439	0.52546	.	.	ENSG00000241697	ENST00000334943;ENST00000374879	T;T	0.60797	0.22;0.16	6.17	6.17	0.99709	.	0.048460	0.85682	N	0.000000	T	0.59115	0.2170	N	0.11560	0.145	0.80722	D	1	B;D	0.89917	0.41;1.0	B;D	0.87578	0.051;0.998	T	0.55755	-0.8091	10	0.17369	T	0.5	-18.1556	18.3732	0.90420	0.0:0.0:1.0:0.0	.	362;323	Q8IYR6;Q8IYR6-2	TEFF1_HUMAN;.	H	323;362	ENSP00000334447:R323H;ENSP00000364013:R362H	ENSP00000334447:R323H	R	+	2	0	TMEFF1	102378645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGT	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053418.1		+	ENST00000374879.4	Missense_Mutation	SNP	9 : 103338824 - 103338824 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	985	330
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	336	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)		TCGAAGCGCTCACGCCCACGG	0.517		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	16	Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|large_intestine(1)|stomach(1)|kidney(1)|pancreas(1)	GRCh37	CM044725	TP53	M							54	43	47			NA	NA	17		NA											NA				7574021		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1006G>T	17.37:g.7574021C>A	ENSP00000269305:p.Glu336*	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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533603	0.64972	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	-2.52	0.06346	.	0.593826	0.18312	N	0.145079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.6657	7.3173	0.26507	0.0:0.4168:0.1214:0.4617	.	.	.	.	X	336;336;325	.	ENSP00000269305:E336X	E	-	1	0	TP53	7514746	0.255000	0.24002	0.017000	0.16124	0.256000	0.26092	0.710000	0.25748	-0.200000	0.10300	-0.258000	0.10820	GAG	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367397.1		-	ENST00000269305.4	Nonsense_Mutation	SNP	17 : 7574021 - 7574021 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	251	53
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94			NA	NA	17		NA											NA				7578263		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.586C>T	17.37:g.7578263G>A	ENSP00000391127:p.Arg196*	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	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578263 - 7578263 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	312	167
TSPAN19	144448	broad.mit.edu	37	12	85421749	85421749	+	Silent	SNP	T	T	C			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr12:85421749T>C	ENST00000532498.2	-	4	272	c.192A>G	c.(190-192)ggA>ggG	p.G64G	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	64						integral to membrane				ovary(1)	1						CAGTAGAAGATCCCATTCCAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		0,3630		0,0,1815	63	59	60		192	0.5	0	12		60	1,8121		0,1,4060	no	coding-synonymous	TSPAN19	NM_001100917.1		0,1,5875	CC,CT,TT	NA	0.0123,0.0,0.0085		64/249	85421749	1,11751	1815	4061	5876	SO:0001819	synonymous_variant				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738	144448	144448		Tetraspanins	31886	protein-coding gene	gene with protein product					NA		Standard	NM_001100917	NM_001100917	NA	Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.192A>G	12.37:g.85421749T>C		NA		37	CCDS44949.1																																																																																			TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388240.2		-	ENST00000532498.2	Silent	SNP	12 : 85421749 - 85421749 C PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	102	33
UTRN	7402	broad.mit.edu	37	6	144812196	144812196	+	Silent	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr6:144812196C>T	ENST00000367545.3	+	31	4395	c.4395C>T	c.(4393-4395)gaC>gaT	p.D1465D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1465	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGTGAAGGACGTAGACCCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	126	136			NA	NA	6		NA											NA				144812196		2203	4300	6503	SO:0001819	synonymous_variant			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	7402	7402			12635	protein-coding gene	gene with protein product		128240	utrophin (homologous to dystrophin)	DMDL	NA	1426262	Standard		NM_007124	NA	Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4395C>T	6.37:g.144812196C>T		NA	Q5SZ57	37	CCDS34547.1																																																																																			UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042551.1		+	ENST00000367545.3	Silent	SNP	6 : 144812196 - 144812196 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	414	139
WDR49	151790	broad.mit.edu	37	3	167319965	167319965	+	Missense_Mutation	SNP	C	C	A	rs150732095	byFrequency	TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr3:167319965C>A	ENST00000479765.1	-	7	1448	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	WDR49_ENST00000453925.2_Missense_Mutation_p.V121F|WDR49_ENST00000308378.3_Missense_Mutation_p.V68F			Q8IV35	WDR49_HUMAN	WD repeat domain 49	68										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGAATTGGACGGCTATTACA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	3		NA											NA				167319965		2203	4300	6503	SO:0001583	missense			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776	151790	151790		WD repeat domain containing	26587	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178824	NM_178824	NA	Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000479765.1:c.1225G>T	3.37:g.167319965C>A	ENSP00000419749:p.Val409Phe	NA	Q8N297	37		.	.	.	.	.	.	.	.	.	.	C	17.29	3.352353	0.61293	.	.	ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925	T;T;T	0.66280	-0.2;-0.2;-0.2	5.4	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.071994	0.53938	D	0.000053	D	0.84813	0.5555	H	0.96365	3.81	0.36824	D	0.886565	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.91161	0.4961	10	0.87932	D	0	.	13.3698	0.60707	0.0:0.9229:0.0:0.0771	.	121;409;68	E7EQK3;E9PDB0;Q8IV35	.;.;WDR49_HUMAN	F	68;409;121	ENSP00000311343:V68F;ENSP00000419749:V409F;ENSP00000410863:V121F	ENSP00000311343:V68F	V	-	1	0	WDR49	168802659	0.997000	0.39634	0.988000	0.46212	0.704000	0.40688	3.973000	0.56845	1.283000	0.44513	-0.226000	0.12346	GTC	WDR49-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000350593.2		-	ENST00000479765.1	Missense_Mutation	SNP	3 : 167319965 - 167319965 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	522	103
ZNF641	121274	broad.mit.edu	37	12	48741853	48741853	+	Silent	SNP	T	T	A			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr12:48741853T>A	ENST00000544117.2	-	2	771	c.63A>T	c.(61-63)gcA>gcT	p.A21A	ZNF641_ENST00000448928.3_Silent_p.A7A|ZNF641_ENST00000547026.1_Silent_p.A7A|ZNF641_ENST00000301042.3_Silent_p.A21A			Q96N77	ZN641_HUMAN	zinc finger protein 641	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCCCAGCGCTGCTGTCTGTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	96	103			NA	NA	12		NA											NA				48741853		2203	4300	6503	SO:0001819	synonymous_variant			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528	121274	121274		Zinc fingers, C2H2-type, -	31834	protein-coding gene	gene with protein product		613906			NA		Standard	NM_152320	NM_152320	NA	Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.63A>T	12.37:g.48741853T>A		NA	Q8TCQ7|Q8WVE1	37	CCDS8763.1																																																																																			ZNF641-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406518.1		-	ENST00000544117.2	Silent	SNP	12 : 48741853 - 48741853 A PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	389	19
ZNF677	342926	broad.mit.edu	37	19	53741049	53741049	+	Silent	SNP	T	T	G			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr19:53741049T>G	ENST00000598513.1	-	5	1081	c.931A>C	c.(931-933)Aga>Cga	p.R311R	ZNF677_ENST00000333952.4_Silent_p.R311R	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GTATGGACTCTCTGATGCCTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	117			NA	NA	19		NA											NA				53741049		2203	4300	6503	SO:0001819	synonymous_variant			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928	342926	342926		Zinc fingers, C2H2-type, -	28730	protein-coding gene	gene with protein product	hypothetical protein MGC48625				NA	12477932	Standard	NM_182609	NM_182609	NA	Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.931A>C	19.37:g.53741049T>G		NA		37	CCDS12861.1																																																																																			ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464189.1		-	ENST00000598513.1	Silent	SNP	19 : 53741049 - 53741049 G PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	540	198
ZPBP2	124626	broad.mit.edu	37	17	38031657	38031657	+	Missense_Mutation	SNP	C	C	T			TCGA-L1-A7W4-01A-12D-A36O-08	TCGA-L1-A7W4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	11d662a5-6e2c-4e20-bfb1-db248e791a23	e910f091-23e6-4a7b-991a-9e824b3bdc76	g.chr17:38031657C>T	ENST00000377940.3	+	6	932	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	ZPBP2_ENST00000584588.1_Missense_Mutation_p.R214C|ZPBP2_ENST00000348931.4_Missense_Mutation_p.R287C	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	287					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAAAAATGAACGTCTACACAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	74	67	70		793,859	2	1	17		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZPBP2	NM_198844.2,NM_199321.2	180,180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	265/317,287/339	38031657	1,13005	2203	4300	6503	SO:0001583	missense			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075	124626	124626		Immunoglobulin superfamily / Immunoglobulin-like domain containing	20678	protein-coding gene	gene with protein product		608499			NA		Standard	NM_198844	XM_005257031	NA	Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000377940.3:c.793C>T	17.37:g.38031657C>T	ENSP00000367174:p.Arg265Cys	NA	A8K8L8|Q6X783|Q86XL5	37	CCDS11353.2	.	.	.	.	.	.	.	.	.	.	C	0.991	-0.693982	0.03303	0.0	1.16E-4	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.70516	0.67;-0.49	5.43	2.01	0.26516	.	0.566009	0.16266	N	0.222020	T	0.46444	0.1393	N	0.08118	0	0.21897	N	0.99948	B;B	0.32939	0.026;0.391	B;B	0.34991	0.002;0.193	T	0.33292	-0.9874	10	0.38643	T	0.18	-2.3179	5.3499	0.16030	0.2359:0.3021:0.462:0.0	.	265;287	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	C	287;265	ENSP00000335384:R287C;ENSP00000367174:R265C	ENSP00000335384:R287C	R	+	1	0	ZPBP2	35285183	0.998000	0.40836	0.998000	0.56505	0.016000	0.09150	0.348000	0.20031	0.294000	0.22547	-2.507000	0.00189	CGT	ZPBP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256608.2		+	ENST00000377940.3	Missense_Mutation	SNP	17 : 38031657 - 38031657 T PAAD-TCGA-L1-A7W4-Tumor-SM-5KWXS	197	15
