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
ADAMTSL1	92949	broad.mit.edu	37	9	18753360	18753360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:18753360G>A	ENST00000380548.4	+	16	2410	c.2071G>A	c.(2071-2073)Gtc>Atc	p.V691I		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	691	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGAGACGTCTTCTGCAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	9		NA											NA				18753360		2028	4193	6221	SO:0001583	missense			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2071G>A	9.37:g.18753360G>A	ENSP00000369921:p.Val691Ile	NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801218	0.50315	.	.	ENSG00000178031	ENST00000380548	T	0.54071	0.59	5.85	4.93	0.64822	.	0.332935	0.13323	N	0.396531	T	0.49236	0.1545	M	0.62154	1.92	0.80722	D	1	B	0.34226	0.443	B	0.29524	0.103	T	0.49303	-0.8954	10	0.54805	T	0.06	.	11.3021	0.49311	0.1505:0.0:0.8495:0.0	.	691	Q8N6G6	ATL1_HUMAN	I	691	ENSP00000369921:V691I	ENSP00000369921:V691I	V	+	1	0	ADAMTSL1	18743360	1.000000	0.71417	0.983000	0.44433	0.706000	0.40770	5.786000	0.69006	1.412000	0.46977	0.655000	0.94253	GTC	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401206.1		+	ENST00000380548.4	Missense_Mutation	SNP	9 : 18753360 - 18753360 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	135	4
AGBL2	79841	broad.mit.edu	37	11	47684620	47684620	+	Silent	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:47684620T>A	ENST00000525123.1	-	18	2778	c.2493A>T	c.(2491-2493)tcA>tcT	p.S831S	AGBL2_ENST00000298861.4_Silent_p.S831S|AGBL2_ENST00000357610.3_Silent_p.S833S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	831					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGGTGGCCATTGATGGGTCCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	140	137			NA	NA	11		NA											NA				47684620		2201	4298	6499	SO:0001819	synonymous_variant				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923	79841	79841			26296	protein-coding gene	gene with protein product	cytoplasmic carboxypeptidase 2				NA	12738998, 21303978	Standard	NM_024783	NM_024783	NA	Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2493A>T	11.37:g.47684620T>A		NA	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	37	CCDS7944.1																																																																																			AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383726.2		-	ENST00000525123.1	Silent	SNP	11 : 47684620 - 47684620 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	1734	156
AMPD3	272	broad.mit.edu	37	11	10518392	10518392	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:10518392C>T	ENST00000396554.3	+	10	1832	c.1491C>T	c.(1489-1491)aaC>aaT	p.N497N	AMPD3_ENST00000444303.2_Silent_p.N329N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	488					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCTGCCAAACTTTGGGAAGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	116	121			NA	NA	11		NA											NA				10518392		2201	4294	6495	SO:0001819	synonymous_variant			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	272	272	3.5.4.6		470	protein-coding gene	gene with protein product	erythrocyte-specific AMP deaminase	102772	adenosine monophosphate deaminase (isoform E)		NA	1400401	Standard	NM_000480	NM_001172430	NA	Approved		uc001min.1	Q01432		ENST00000396554.3:c.1491C>T	11.37:g.10518392C>T		NA	B7Z877	37	CCDS7802.1																																																																																			AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385783.2		+	ENST00000396554.3	Silent	SNP	11 : 10518392 - 10518392 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	663	46
BHLHB9	80823	broad.mit.edu	37	X	102004308	102004308	+	Missense_Mutation	SNP	G	G	T	rs112563174	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:102004308G>T	ENST00000372735.1	+	4	970	c.385G>T	c.(385-387)Gct>Tct	p.A129S	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A129S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	129						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGAGAAGAGGCTGGTAATAG	0.512		NA											G	2	0.0012	0.01	NA	1659	NA	1	,	,	NA	1e-04	NA	NA	NA	0.0018	1	LOWCOV	NA	NA	8e-04	SNP								NA				0								G	SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA	19,3816		0,18,1,1614,570	75	70	72		385,385,385,385,385,385,385,385	1.2	0.1	X	dbSNP_132	72	0,6728		0,0,0,2428,1872	yes	missense,missense,missense,missense,missense,missense,missense,missense	BHLHB9	NM_001142524.1,NM_001142525.1,NM_001142526.1,NM_001142527.1,NM_001142528.1,NM_001142529.1,NM_001142530.1,NM_030639.2	99,99,99,99,99,99,99,99	0,18,1,4042,2442	TT,TG,T,GG,G	NA	0.0,0.4954,0.1799	benign,benign,benign,benign,benign,benign,benign,benign	129/548,129/548,129/548,129/548,129/548,129/548,129/548,129/548	102004308	19,10544	2203	4300	6503	SO:0001583	missense			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908	80823	80823		Basic helix-loop-helix proteins, Armadillo repeat containing	29353	protein-coding gene	gene with protein product		300921			NA	11214970, 15034937, 16221301	Standard	NM_030639	NM_030639	NA	Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.385G>T	X.37:g.102004308G>T	ENSP00000361820:p.Ala129Ser	NA	Q9C0G2	37	CCDS14502.1	2	0.0012055455093429777	0	0.0	0	0.0	0	0.0	0	0.0	G	0.419	-0.909449	0.02434	0.004954	0.0	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	4.24	1.25	0.21368	.	1.339950	0.05332	N	0.528551	T	0.14485	0.0350	L	0.59436	1.845	0.09310	N	1	B	0.34103	0.437	B	0.32090	0.14	T	0.30534	-0.9975	9	.	.	.	-8.1436	5.1928	0.15218	0.2257:0.1632:0.6111:0.0	.	129	Q6PI77	BHLH9_HUMAN	S	129	ENSP00000403226:A129S;ENSP00000354675:A129S;ENSP00000405893:A129S;ENSP00000391722:A129S;ENSP00000361820:A129S	.	A	+	1	0	BHLHB9	101890964	0.010000	0.17322	0.092000	0.20876	0.084000	0.17831	-0.220000	0.09215	0.118000	0.18165	0.529000	0.55759	GCT	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057630.1		+	ENST00000372735.1	Missense_Mutation	SNP	X : 102004308 - 102004308 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	286	6
BRPF3	27154	broad.mit.edu	37	6	36182091	36182091	+	Missense_Mutation	SNP	C	C	T	rs148223802	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36182091C>T	ENST00000357641.6	+	8	3170	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	973					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.R973W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGCCACTCCCGGAAGCGGCC	0.617		NA											C	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0014	0.9844	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				1	Substitution - Missense(1)	lung(1)						C	TRP/ARG	16,4388		0,16,2186	38	45	42		2917	5.8	1	6	dbSNP_134	42	0,8600		0,0,4300	yes	missense	BRPF3	NM_015695.2	101	0,16,6486	TT,TC,CC	NA	0.0,0.3633,0.123	probably-damaging	973/1206	36182091	16,12988	2202	4300	6502	SO:0001583	missense			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070	27154	27154			14256	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_015695	NM_015695	NA	Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2917C>T	6.37:g.36182091C>T	ENSP00000350267:p.Arg973Trp	NA	A6NJE2|Q5R3K8	37	CCDS34437.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	23.2	4.385814	0.82792	0.003633	0.0	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.22336	2.16;1.96	5.8	5.8	0.92144	.	0.300838	0.31784	N	0.007072	T	0.39937	0.1097	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.15607	-1.0431	10	0.66056	D	0.02	.	18.2355	0.89948	0.0:1.0:0.0:0.0	.	973	Q9ULD4	BRPF3_HUMAN	W	973;973;387	ENSP00000350267:R973W;ENSP00000436504:R973W	ENSP00000350267:R973W	R	+	1	2	BRPF3	36290069	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.620000	0.36976	2.743000	0.94032	0.455000	0.32223	CGG	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040335.3		+	ENST00000357641.6	Missense_Mutation	SNP	6 : 36182091 - 36182091 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	387	45
C4orf22	255119	broad.mit.edu	37	4	81791173	81791173	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:81791173T>A	ENST00000358105.3	+	4	409	c.360T>A	c.(358-360)aaT>aaA	p.N120K	C4orf22_ENST00000508675.1_Missense_Mutation_p.N137K	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	120										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GTGACAGAAATTCTCATGGGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	112	111			NA	NA	4		NA											NA				81791173		2203	4300	6503	SO:0001583	missense			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826	255119	255119			28554	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152770	NM_152770	NA	Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.360T>A	4.37:g.81791173T>A	ENSP00000350818:p.Asn120Lys	NA	Q6ZQY4|Q8N4G9	37	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259091	0.39896	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30448	1.53;1.53	5.07	1.47	0.22746	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.91249	3.19	0.35988	D	0.836487	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.987	T	0.66232	-0.5975	10	0.66056	D	0.02	-28.3489	7.5202	0.27624	0.0:0.3305:0.0:0.6695	.	137;120	E7EQ13;Q6V702	.;CD022_HUMAN	K	120;137	ENSP00000350818:N120K;ENSP00000425786:N137K	ENSP00000350818:N120K	N	+	3	2	C4orf22	82010197	0.863000	0.29885	0.981000	0.43875	0.101000	0.19017	0.974000	0.29436	0.775000	0.33450	0.477000	0.44152	AAT	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252629.2		+	ENST00000358105.3	Missense_Mutation	SNP	4 : 81791173 - 81791173 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	623	100
CCNK	8812	broad.mit.edu	37	14	99968673	99968673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:99968673G>A	ENST00000389879.5	+	7	828	c.705G>A	c.(703-705)tgG>tgA	p.W235*	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Nonsense_Mutation_p.W235*	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	235					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GGAGATGGTGGGAGCAGTTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	115	116			NA	NA	14		NA											NA				99968673		1987	4155	6142	SO:0001587	stop_gained			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061	8812	8812			1596	protein-coding gene	gene with protein product		603544			NA	9632813, 10574912	Standard		NM_001099402	NA	Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.705G>A	14.37:g.99968673G>A	ENSP00000374529:p.Trp235*	NA	Q59FT6|Q86U16|Q96B63|Q9NNY9	37	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449593	0.96205	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000555049	.	.	.	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8638	14.9565	0.71116	0.0693:0.0:0.9307:0.0	.	.	.	.	X	235;237;237;235;235	.	ENSP00000216279:W237X	W	+	3	0	CCNK	99038426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	2.652000	0.90054	0.655000	0.94253	TGG	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413721.1		+	ENST00000389879.5	Nonsense_Mutation	SNP	14 : 99968673 - 99968673 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	153	5
CDC45	8318	broad.mit.edu	37	22	19492919	19492919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:19492919C>T	ENST00000407835.1	+	11	995	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	CDC45_ENST00000404724.3_Missense_Mutation_p.R201C|CDC45_ENST00000437685.2_Missense_Mutation_p.R279C|CDC45_ENST00000263201.1_Missense_Mutation_p.R247C			O75419	CDC45_HUMAN	cell division cycle 45	247					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGTCCTGCAGCGCCACGTTTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	80	88			NA	NA	22		NA											NA				19492919		2203	4300	6503	SO:0001583	missense			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009	8318	8318			1739	protein-coding gene	gene with protein product	human CDC45	603465	CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like, CDC45 cell division cycle 45-like (S. cerevisiae), cell division cycle 45 homolog (S. cerevisiae)	CDC45L2, CDC45L	NA	9660782, 9724329, 17608804	Standard	NM_003504	NM_001178010	NA	Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.739C>T	22.37:g.19492919C>T	ENSP00000385240:p.Arg247Cys	NA	O60856|Q20WK8|Q6UW54|Q9UP68	37	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502953	0.85176	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.987;0.964;0.991;0.987;0.991	T	0.55823	-0.8080	10	0.56958	D	0.05	-20.991	18.7616	0.91853	0.0:1.0:0.0:0.0	.	279;242;201;279;247	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	C	247;279;247;201	ENSP00000385240:R247C;ENSP00000405726:R279C;ENSP00000263201:R247C;ENSP00000384978:R201C	ENSP00000263201:R247C	R	+	1	0	CDC45	17872919	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.500000	0.60387	2.427000	0.82271	0.462000	0.41574	CGC	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317903.1		+	ENST00000407835.1	Missense_Mutation	SNP	22 : 19492919 - 19492919 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	286	22
CFTR	1080	broad.mit.edu	37	7	117250657	117250657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:117250657G>A	ENST00000003084.6	+	19	3205	c.3073G>A	c.(3073-3075)Gct>Act	p.A1025T	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.A964T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1025	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGTGATAGTGGCTTTTATTAT	0.383		NA							Cystic Fibrosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	119	124			NA	NA	7		NA											NA				117250657		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626	1080	1080		Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators, ATP binding cassette transporters / subfamily C	1884	protein-coding gene	gene with protein product	ATP-binding cassette sub-family C, member 7	602421	cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	CF, ABCC7	NA	2772657	Standard	NM_000492	XM_006715842	NA	Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3073G>A	7.37:g.117250657G>A	ENSP00000003084:p.Ala1025Thr	NA	Q20BG8|Q20BH2|Q2I0A1|Q2I102	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205615	0.22205	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89617	-2.54;-2.54;-2.54	6.16	4.37	0.52481	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.194135	0.56097	N	0.000040	D	0.85767	0.5773	L	0.49571	1.57	0.35828	D	0.825115	B	0.02656	0.0	B	0.12156	0.007	D	0.84020	0.0353	10	0.48119	T	0.1	-3.1277	13.4064	0.60915	0.1273:0.0:0.8727:0.0	.	1025	P13569	CFTR_HUMAN	T	1025;964;995	ENSP00000003084:A1025T;ENSP00000403677:A964T;ENSP00000389119:A995T	ENSP00000003084:A1025T	A	+	1	0	CFTR	117037893	1.000000	0.71417	0.024000	0.17045	0.185000	0.23345	5.733000	0.68571	0.941000	0.37499	-0.157000	0.13467	GCT	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059397.3		+	ENST00000003084.6	Missense_Mutation	SNP	7 : 117250657 - 117250657 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	421	37
CNTN5	53942	broad.mit.edu	37	11	100211266	100211266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:100211266C>A	ENST00000524871.1	+	22	3092	c.2802C>A	c.(2800-2802)ttC>ttA	p.F934L	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.F934L|CNTN5_ENST00000279463.3_Missense_Mutation_p.F934L|CNTN5_ENST00000418526.2_Missense_Mutation_p.F860L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	934	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.F934F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGAGTCTTTCGTCATCCTAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											92	92	92			NA	NA	11		NA											NA				100211266		1927	4147	6074	SO:0001583	missense			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972	53942	53942		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2175	protein-coding gene	gene with protein product		607219			NA		Standard	NM_014361	NM_014361	NA	Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2802C>A	11.37:g.100211266C>A	ENSP00000435637:p.Phe934Leu	NA	A1L4P0|B7ZM07|O94780	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	4.092	0.014996	0.07959	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.18	-5.25	0.02781	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.412070	0.29053	N	0.013284	T	0.19886	0.0478	N	0.01576	-0.805	0.09310	N	0.999997	B;B	0.21688	0.019;0.059	B;B	0.23716	0.01;0.048	T	0.23797	-1.0178	9	.	.	.	.	14.7843	0.69790	0.0:0.4529:0.0:0.5471	.	860;934	O94779-2;O94779	.;CNTN5_HUMAN	L	934;934;860;934	ENSP00000436185:F934L;ENSP00000435637:F934L;ENSP00000393229:F860L;ENSP00000279463:F934L	.	F	+	3	2	CNTN5	99716476	0.000000	0.05858	0.031000	0.17742	0.006000	0.05464	-1.952000	0.01528	-0.884000	0.03976	-0.216000	0.12614	TTC	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395148.2		+	ENST00000524871.1	Missense_Mutation	SNP	11 : 100211266 - 100211266 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	174	36
COPE	11316	broad.mit.edu	37	19	19016396	19016396	+	Silent	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:19016396C>A	ENST00000600932.1	-	6	586	c.555G>T	c.(553-555)ctG>ctT	p.L185L	COPE_ENST00000349893.4_Silent_p.L162L|COPE_ENST00000262812.4_Silent_p.L162L|COPE_ENST00000351079.4_Silent_p.L111L|COPE_ENST00000598969.1_5'UTR			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	162					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GGGCGAGGTCCAGGCGGTCCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	19		NA											NA				19016396		2201	4297	6498	SO:0001819	synonymous_variant			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669	11316	11316			2234	protein-coding gene	gene with protein product		606942			NA	10469566	Standard	NM_007263	NM_007263	NA	Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000600932.1:c.555G>T	19.37:g.19016396C>A		NA	O76097|Q6IBB8	37																																																																																				COPE-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000464805.1		-	ENST00000600932.1	Silent	SNP	19 : 19016396 - 19016396 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	101	4
CSGALNACT1	55790	broad.mit.edu	37	8	19363332	19363332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:19363332C>T	ENST00000454498.2	-	4	1027	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R5H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	5					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CAGCCCCCGGCGAACCATCAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	8		NA											NA				19363332		2202	4300	6502	SO:0001583	missense			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408	55790	55790		Beta 4-glycosyltransferases	24290	protein-coding gene	gene with protein product	chondroitin beta1,4 N-acetylgalactosaminyltransferase				NA	17145758, 12446672	Standard	NM_018371	NM_018371	NA	Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.14G>A	8.37:g.19363332C>T	ENSP00000411816:p.Arg5His	NA	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259207	0.95368	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003;ENST00000524213	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.84	5.84	0.93424	.	0.061588	0.64402	D	0.000004	T	0.54822	0.1882	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	T	0.56643	-0.7945	10	0.87932	D	0	-29.161	18.7017	0.91623	0.0:1.0:0.0:0.0	.	5	Q8TDX6	CGAT1_HUMAN	H	5	ENSP00000411816:R5H;ENSP00000330805:R5H;ENSP00000310891:R5H;ENSP00000429809:R5H;ENSP00000442155:R5H	ENSP00000310891:R5H	R	-	2	0	CSGALNACT1	19407612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.779000	0.95612	0.655000	0.94253	CGC	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375204.1		-	ENST00000454498.2	Missense_Mutation	SNP	8 : 19363332 - 19363332 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	569	44
CYB5R3	1727	broad.mit.edu	37	22	43032758	43032758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:43032758G>A	ENST00000396303.3	-	2	198	c.47C>T	c.(46-48)cCg>cTg	p.P16L	CYB5R3_ENST00000352397.5_Missense_Mutation_p.P39L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000407332.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000361740.4_Missense_Mutation_p.P72L|CYB5R3_ENST00000407623.3_Missense_Mutation_p.P16L	NM_001171661.1|NM_007326.4	NP_001165132.1|NP_015565.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	39					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	CTTGATGTCCGGGCTCTCGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	58	53	55		116,47,215,47,47	4.8	1	22		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CYB5R3	NM_000398.6,NM_001129819.2,NM_001171660.1,NM_001171661.1,NM_007326.4	98,98,98,98,98	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,benign,benign,benign	39/302,16/279,72/335,16/279,16/279	43032758	1,13005	2203	4300	6503	SO:0001583	missense			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1727	1727	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	diaphorase (NADH) (cytochrome b-5 reductase)	DIA1	NA	2479590, 3268037	Standard		NM_001129819	NA	Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000396303.3:c.47C>T	22.37:g.43032758G>A	ENSP00000379597:p.Pro16Leu	NA	B1AHF2|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	37	CCDS14040.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365903	0.61513	0.0	1.16E-4	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	4.82	4.82	0.62117	Riboflavin synthase-like beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.853	D;B	0.67103	0.949;0.235	D	0.92692	0.6167	10	0.87932	D	0	-34.6456	15.7659	0.78126	0.0:0.0:1.0:0.0	.	72;39	B7Z7L3;P00387	.;NB5R3_HUMAN	L	72;16;39;16;16;16;16	ENSP00000354468:P72L;ENSP00000379597:P16L;ENSP00000338461:P39L;ENSP00000384834:P16L;ENSP00000384457:P16L;ENSP00000385679:P16L;ENSP00000403439:P16L	ENSP00000338461:P39L	P	-	2	0	CYB5R3	41362702	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	8.716000	0.91420	2.387000	0.81309	0.313000	0.20887	CCG	CYB5R3-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319919.4		-	ENST00000396303.3	Missense_Mutation	SNP	22 : 43032758 - 43032758 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	206	37
DAGLB	221955	broad.mit.edu	37	7	6465643	6465643	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:6465643G>A	ENST00000425398.2	-	5	736	c.645C>T	c.(643-645)ttC>ttT	p.F215F	DAGLB_ENST00000436575.1_Silent_p.F303F|DAGLB_ENST00000428902.2_Silent_p.F217F|DAGLB_ENST00000297056.6_Silent_p.F344F|DAGLB_ENST00000421761.2_Silent_p.F88F	NM_001142936.1	NP_001136408.1	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	344					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGACGTGGATGAAGTCCCTGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	109	113			NA	NA	7		NA											NA				6465643		2203	4300	6503	SO:0001819	synonymous_variant			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	221955	221955	3.1.1.-		28923	protein-coding gene	gene with protein product		614016			NA		Standard	NM_139179	NM_139179	NA	Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000425398.2:c.645C>T	7.37:g.6465643G>A		NA	A4D2P3|B3KV90|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	37	CCDS47536.1																																																																																			DAGLB-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341922.1		-	ENST00000425398.2	Silent	SNP	7 : 6465643 - 6465643 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	422	78
DCSTAMP	81501	broad.mit.edu	37	8	105360959	105360959	+	Missense_Mutation	SNP	C	C	T	rs138578884		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:105360959C>T	ENST00000517991.1	+	1	191	c.179C>T	c.(178-180)gCg>gTg	p.A60V	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000297581.2_Missense_Mutation_p.A60V	NM_001257317.1	NP_001244246.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	60	Poly-Ala.				osteoclast differentiation	cell surface|integral to membrane|plasma membrane					NA						TCAATCATAGCGGCCGCTGCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	134	123	126		179	-0.8	0	8	dbSNP_134	126	0,8600		0,0,4300	no	missense	TM7SF4	NM_030788.2	64	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	benign	60/471	105360959	3,13003	2203	4300	6503	SO:0001583	missense			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935	81501	81501			18549	protein-coding gene	gene with protein product	Dendritic cells (DC)-specific transmembrane protein, IL-Four INDuced	605933	transmembrane 7 superfamily member 4	TM7SF4	NA	11169400, 11345591	Standard	NM_030788	NM_030788	NA	Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000517991.1:c.179C>T	8.37:g.105360959C>T	ENSP00000428869:p.Ala60Val	NA	Q2M2D5	37	CCDS59111.1	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356388	0.11239	6.81E-4	0.0	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.28666	1.6	5.73	-0.836	0.10770	.	1.038190	0.07556	N	0.916197	T	0.09335	0.0230	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34850	-0.9812	9	.	.	.	-4.7036	7.2542	0.26166	0.0:0.2685:0.1157:0.6158	.	60	Q9H295	TM7S4_HUMAN	V	60	ENSP00000297581:A60V	.	A	+	2	0	TM7SF4	105430135	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.127000	0.10547	-0.366000	0.08064	-0.126000	0.14955	GCG	DCSTAMP-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380811.1		+	ENST00000517991.1	Missense_Mutation	SNP	8 : 105360959 - 105360959 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	956	276
DOCK3	1795	broad.mit.edu	37	3	51370621	51370621	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:51370621G>A	ENST00000266037.9	+	35	3571	c.3548G>A	c.(3547-3549)cGc>cAc	p.R1183H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1183	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAAACATGGCGCGAGACCGGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,3882		0,0,1941	119	120	120		3548	6.1	1	3		120	1,8275		0,1,4137	no	missense	DOCK3	NM_004947.4	29	0,1,6078	AA,AG,GG	NA	0.0121,0.0,0.0082	probably-damaging	1183/2031	51370621	1,12157	1941	4138	6079	SO:0001583	missense			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538	1795	1795			2989	protein-coding gene	gene with protein product		603123	dedicator of cyto-kinesis 3		NA	9205841	Standard	NM_004947	NM_004947	NA	Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3548G>A	3.37:g.51370621G>A	ENSP00000266037:p.Arg1183His	NA	O15017	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411305	0.96072	0.0	1.21E-4	ENSG00000088538	ENST00000266037	T	0.52057	0.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.57312	-0.7833	10	0.18276	T	0.48	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1183	Q8IZD9	DOCK3_HUMAN	H	1183	ENSP00000266037:R1183H	ENSP00000266037:R1183H	R	+	2	0	DOCK3	51345661	1.000000	0.71417	0.978000	0.43139	0.895000	0.52256	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	CGC	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346478.5		+	ENST00000266037.9	Missense_Mutation	SNP	3 : 51370621 - 51370621 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	956	79
DOCK4	9732	broad.mit.edu	37	7	111503593	111503593	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:111503593C>T	ENST00000428084.1	-	23	2580	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.V770M			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	770					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.V758M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTGAGTACACGGCAGGGAAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											42	40	41			NA	NA	7		NA											NA				111503593		1913	4104	6017	SO:0001583	missense				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512	9732	9732			19192	protein-coding gene	gene with protein product		607679			NA	12432077, 12628187	Standard	NM_014705	XM_006716188	NA	Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000428084.1:c.2308G>A	7.37:g.111503593C>T	ENSP00000410746:p.Val770Met	NA	O14584|O94824|Q8NB45	37		.	.	.	.	.	.	.	.	.	.	C	19.14	3.769804	0.69992	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03301	3.98;3.98	5.23	5.23	0.72850	.	0.126462	0.52532	D	0.000063	T	0.07548	0.0190	L	0.45352	1.415	0.80722	D	1	D;D;P;D	0.58268	0.97;0.97;0.947;0.982	P;B;B;P	0.46796	0.522;0.418;0.324;0.527	T	0.11372	-1.0590	10	0.54805	T	0.06	.	18.9943	0.92806	0.0:1.0:0.0:0.0	.	770;770;770;770	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	M	758;770;770;758;769	ENSP00000410746:V770M;ENSP00000404179:V770M	ENSP00000345432:V758M	V	-	1	0	DOCK4	111290829	0.994000	0.37717	0.985000	0.45067	0.832000	0.47134	3.082000	0.50128	2.706000	0.92434	0.563000	0.77884	GTG	DOCK4-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338943.2		-	ENST00000428084.1	Missense_Mutation	SNP	7 : 111503593 - 111503593 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	139	15
DYNC2H1	79659	broad.mit.edu	37	11	103175414	103175414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:103175414C>A	ENST00000375735.2	+	77	11491	c.11347C>A	c.(11347-11349)Cat>Aat	p.H3783N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H3790N|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3783	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGAACTTACATCTTGTGGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	99	99			NA	NA	11		NA											NA				103175414		1871	4107	5978	SO:0001583	missense			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	79659	79659		Cytoplasmic dyneins	2962	protein-coding gene	gene with protein product		603297	dynein, cytoplasmic, heavy polypeptide 2	DNCH2	NA	9763680, 9373155	Standard	XM_370652	NM_001080463	NA	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11347C>A	11.37:g.103175414C>A	ENSP00000364887:p.His3783Asn	NA	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549973	0.86127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.34275	1.37;1.37	5.37	5.37	0.77165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.982;0.987	T	0.77544	-0.2548	10	0.87932	D	0	.	17.6563	0.88179	0.0:1.0:0.0:0.0	.	3783;3790	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	3783;3790;29	ENSP00000364887:H3783N;ENSP00000381167:H3790N	ENSP00000364887:H3783N	H	+	1	0	DYNC2H1	102680624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.557000	0.82243	2.687000	0.91594	0.655000	0.94253	CAT	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387196.1		+	ENST00000375735.2	Missense_Mutation	SNP	11 : 103175414 - 103175414 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	478	29
F10	2159	broad.mit.edu	37	13	113803461	113803461	+	Missense_Mutation	SNP	G	G	A	rs143715673		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:113803461G>A	ENST00000375551.3	+	0	1129				F10_ENST00000409306.1_3'UTR|F10_ENST00000375559.3_Missense_Mutation_p.R366H			P00742	FA10_HUMAN	coagulation factor X	NA					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTTCGGGCGCACCCACGAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	40	39	39		1097	3.2	0.9	13	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense	F10	NM_000504.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	366/489	113803461	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	2159	2159	3.4.21.6		3528	protein-coding gene	gene with protein product		613872			NA		Standard		XM_005268298	NA	Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375551.3:c.*88G>A	13.37:g.113803461G>A		NA	Q14340	37		.	.	.	.	.	.	.	.	.	.	G	11.18	1.563420	0.27915	0.0	1.16E-4	ENSG00000126218	ENST00000375559	D	0.89485	-2.52	5.05	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.210237	0.40064	N	0.001187	T	0.80369	0.4610	L	0.44542	1.39	0.44006	D	0.996714	P	0.40731	0.728	B	0.30401	0.115	T	0.76332	-0.2998	10	0.66056	D	0.02	.	7.2696	0.26250	0.155:0.0:0.7094:0.1356	.	366	P00742	FA10_HUMAN	H	366	ENSP00000364709:R366H	ENSP00000364709:R366H	R	+	2	0	F10	112851462	0.591000	0.26824	0.863000	0.33907	0.028000	0.11728	2.825000	0.48096	0.465000	0.27167	-0.311000	0.09066	CGC	F10-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045842.1		+	ENST00000375551.3	3'UTR	SNP	13 : 113803461 - 113803461 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	220	5
FAT4	79633	broad.mit.edu	37	4	126372829	126372829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:126372829C>T	ENST00000394329.3	+	9	10671	c.10658C>T	c.(10657-10659)cCt>cTt	p.P3553L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1851L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3553	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCACAGGTCCTGCCACCAGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	119	119			NA	NA	4		NA											NA				126372829		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10658C>T	4.37:g.126372829C>T	ENSP00000377862:p.Pro3553Leu	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451173	0.43531	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.54279	0.58;0.58	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.000000	0.34362	U	0.004024	T	0.50051	0.1593	L	0.41632	1.29	0.80722	D	1	P;P;P	0.46142	0.873;0.72;0.617	B;B;B	0.42282	0.382;0.334;0.178	T	0.42430	-0.9452	10	0.34782	T	0.22	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1851;3553;3553	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3553;1851	ENSP00000377862:P3553L;ENSP00000335169:P1851L	ENSP00000335169:P1851L	P	+	2	0	FAT4	126592279	0.999000	0.42202	0.574000	0.28523	0.231000	0.25187	7.662000	0.83803	2.793000	0.96121	0.655000	0.94253	CCT	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126372829 - 126372829 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	1033	217
GUCY2F	2986	broad.mit.edu	37	X	108718972	108718972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:108718972G>A	ENST00000218006.2	-	2	485	c.194C>T	c.(193-195)tCg>tTg	p.S65L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	65					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGAAAACAGCGAATCACAAGC	0.532		NA									OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	64	67			NA	NA	X		NA											NA				108718972		2203	4300	6503	SO:0001583	missense			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890	2986	2986			4691	protein-coding gene	gene with protein product	guanylate cyclase 2D-like, membrane (retina-specific)	300041			NA	8838319, 7777544	Standard	NM_001522	NM_001522	NA	Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.194C>T	X.37:g.108718972G>A	ENSP00000218006:p.Ser65Leu	1414	Q9UJF1	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976156	0.34848	.	.	ENSG00000101890	ENST00000218006	T	0.73152	-0.72	4.95	3.15	0.36227	.	0.187399	0.47852	D	0.000202	T	0.37839	0.1018	N	0.02539	-0.55	0.26327	N	0.977573	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.11794	T	0.64	.	6.7942	0.23717	0.0986:0.0:0.7215:0.1799	.	65	P51841	GUC2F_HUMAN	L	65	ENSP00000218006:S65L	ENSP00000218006:S65L	S	-	2	0	GUCY2F	108605628	1.000000	0.71417	0.773000	0.31616	0.757000	0.42996	3.428000	0.52792	1.182000	0.42928	0.600000	0.82982	TCG	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057884.1		-	ENST00000218006.2	Missense_Mutation	SNP	X : 108718972 - 108718972 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	228	5
IVNS1ABP	10625	broad.mit.edu	37	1	185267230	185267230	+	Silent	SNP	C	C	T	rs74132213	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:185267230C>T	ENST00000367498.3	-	15	2488	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	IVNS1ABP_ENST00000392007.3_Silent_p.T404T|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	622					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGACTTCCACCGTATTCAGAA	0.408		NA											C	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	5e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C		27,4379	32.6+/-62.9	0,27,2176	196	187	190		1866	-5	0.9	1	dbSNP_130	190	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IVNS1ABP	NM_006469.4		0,28,6475	TT,TC,CC	NA	0.0116,0.6128,0.2153		622/643	185267230	28,12978	2203	4300	6503	SO:0001819	synonymous_variant			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679	10625	10625		Kelch-like, BTB/POZ domain containing	16951	protein-coding gene	gene with protein product	kelch-like family member 39	609209			NA	9696811, 10048485	Standard	NM_006469	NM_006469	NA	Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1866G>A	1.37:g.185267230C>T		NA	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	37	CCDS1368.1																																																																																			IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085774.1		-	ENST00000367498.3	Silent	SNP	1 : 185267230 - 185267230 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	1622	128
KCNQ2	3785	broad.mit.edu	37	20	62044927	62044927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:62044927G>A	ENST00000359125.2	-	15	1813	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	KCNQ2_ENST00000359689.1_Missense_Mutation_p.R547W|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R516W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R529W|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R519W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R519W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R519W	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	547					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ACCAGGAACCGCATGACACTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	80	80			NA	NA	20		NA											NA				62044927		2203	4300	6503	SO:0001583	missense			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043	3785	3785		Potassium channels, Voltage-gated ion channels / Potassium channels	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1	NA	9425895, 16382104	Standard	NM_172109	NM_172107	NA	Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1639C>T	20.37:g.62044927G>A	ENSP00000352035:p.Arg547Trp	NA	O43796|O75580|O95845|Q4VXP4|Q5VYT8|Q96J59|Q99454	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	g	17.04	3.287648	0.59976	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99698	-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44	4.99	-1.15	0.09709	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.069255	0.64402	D	0.000020	D	0.99510	0.9825	M	0.61703	1.905	0.39221	D	0.963502	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.976;0.976;0.976;0.986	D	0.97657	1.0158	10	0.87932	D	0	-38.4785	18.3871	0.90470	0.0:0.0:0.2606:0.7394	.	519;529;516;547	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	W	529;547;517;519;547;516;519;507;519;519	ENSP00000349789:R529W;ENSP00000352035:R547W;ENSP00000359246:R517W;ENSP00000346601:R519W;ENSP00000352718:R547W;ENSP00000399612:R516W;ENSP00000353668:R519W;ENSP00000339611:R507W;ENSP00000359244:R519W;ENSP00000359242:R519W	ENSP00000339611:R507W	R	-	1	2	KCNQ2	61515371	0.782000	0.28689	0.989000	0.46669	0.803000	0.45373	0.217000	0.17603	-0.506000	0.06558	-1.418000	0.01112	CGG	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080353.1		-	ENST00000359125.2	Missense_Mutation	SNP	20 : 62044927 - 62044927 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	809	95
KPRP	448834	broad.mit.edu	37	1	152732093	152732093	+	Missense_Mutation	SNP	G	G	A	rs77368440		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:152732093G>A	ENST00000606109.1	+	1	57	c.29G>A	c.(28-30)cGc>cAc	p.R10H	KPRP_ENST00000368773.1_Missense_Mutation_p.R10H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	10	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCAGTGCCGCCTGCCGCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	62	62		29	3.7	0.4	1	dbSNP_131	62	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPRP	NM_001025231.1	29	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	10/580	152732093	2,13004	2203	4300	6503	SO:0001583	missense			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786	448834	448834			31823	protein-coding gene	gene with protein product		613260	chromosome 1 open reading frame 45	C1orf45	NA	16297201	Standard	NM_001025231	NM_001025231	NA	Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.29G>A	1.37:g.152732093G>A	ENSP00000475216:p.Arg10His	NA		37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167358	0.21621	2.27E-4	1.16E-4	ENSG00000203786	ENST00000368773	T	0.11821	2.74	5.54	3.66	0.41972	.	0.577262	0.15899	N	0.239152	T	0.02230	0.0069	N	0.08118	0	0.09310	N	0.999994	B	0.09022	0.002	B	0.04013	0.001	T	0.42582	-0.9443	10	0.56958	D	0.05	-2.0206	8.2067	0.31458	0.0844:0.157:0.7586:0.0	.	10	Q5T749	KPRP_HUMAN	H	10	ENSP00000357762:R10H	ENSP00000357762:R10H	R	+	2	0	KPRP	150998717	0.003000	0.15002	0.358000	0.25811	0.697000	0.40408	0.027000	0.13621	0.827000	0.34685	0.655000	0.94253	CGC	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034522.2		+	ENST00000606109.1	Missense_Mutation	SNP	1 : 152732093 - 152732093 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	568	54
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	167	30
KRT37	8688	broad.mit.edu	37	17	39579066	39579066	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:39579066C>A	ENST00000225550.3	-	3	695	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	232	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTGCTCCTCCTTCAGGGACT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	47	50			NA	NA	17		NA											NA				39579066		2203	4297	6500	SO:0001583	missense			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417	8688	8688		-, Intermediate filaments type I, keratins (acidic)	6455	protein-coding gene	gene with protein product		604541	keratin, hair, acidic, 7	KRTHA7	NA	9756910, 16831889	Standard	NM_003770	NM_003770	NA	Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.696G>T	17.37:g.39579066C>A	ENSP00000225550:p.Lys232Asn	NA		37	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	19.52	3.842774	0.71488	.	.	ENSG00000108417	ENST00000225550	D	0.89050	-2.46	4.86	3.89	0.44902	Filament (1);	0.000000	0.48767	D	0.000168	D	0.93229	0.7843	M	0.84773	2.715	0.36535	D	0.870956	D	0.65815	0.995	D	0.65443	0.935	D	0.93696	0.7011	10	0.48119	T	0.1	.	8.3474	0.32281	0.0:0.7613:0.1549:0.0839	.	232	O76014	KRT37_HUMAN	N	232	ENSP00000225550:K232N	ENSP00000225550:K232N	K	-	3	2	KRT37	36832592	0.750000	0.28316	1.000000	0.80357	0.981000	0.71138	0.281000	0.18810	1.058000	0.40530	-0.126000	0.14955	AAG	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257714.2		-	ENST00000225550.3	Missense_Mutation	SNP	17 : 39579066 - 39579066 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	348	35
LRP11	84918	broad.mit.edu	37	6	150164252	150164252	+	Silent	SNP	T	T	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:150164252T>C	ENST00000239367.2	-	3	785	c.780A>G	c.(778-780)caA>caG	p.Q260Q	LRP11_ENST00000546019.1_Silent_p.Q5Q|LRP11_ENST00000367368.2_Silent_p.Q260Q	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	260	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GGGTTCCTGATTGAGGCACCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		1,4405	2.1+/-5.4	0,1,2202	102	81	88		780	-1.4	1	6		88	0,8600		0,0,4300	no	coding-synonymous	LRP11	NM_032832.5		0,1,6502	CC,CT,TT	NA	0.0,0.0227,0.0077		260/501	150164252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256	84918	84918		Low density lipoprotein receptors	16936	protein-coding gene	gene with protein product					NA		Standard	NM_032832	NM_032832	NA	Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.780A>G	6.37:g.150164252T>C		NA	Q5VYC0|Q96SN6	37	CCDS5220.1																																																																																			LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042664.1		-	ENST00000239367.2	Silent	SNP	6 : 150164252 - 150164252 C PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	431	52
LRP1B	53353	broad.mit.edu	37	2	141771238	141771238	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:141771238T>A	ENST00000389484.3	-	14	3238	c.2267A>T	c.(2266-2268)tAt>tTt	p.Y756F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	756					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATTCATATAATCAGTCCA	0.388		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													132	126	128			NA	NA	2		NA											NA				141771238		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2267A>T	2.37:g.141771238T>A	ENSP00000374135:p.Tyr756Phe	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854521	0.71719	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000002	D	0.92750	0.7695	L	0.42008	1.315	0.53005	D	0.999968	D	0.69078	0.997	D	0.75020	0.985	D	0.91144	0.4948	10	0.25751	T	0.34	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	756	Q9NZR2	LRP1B_HUMAN	F	756;694	ENSP00000374135:Y756F	ENSP00000374135:Y756F	Y	-	2	0	LRP1B	141487708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.900000	0.87376	2.203000	0.70933	0.533000	0.62120	TAT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141771238 - 141771238 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	787	156
LRP2	4036	broad.mit.edu	37	2	170092528	170092528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:170092528C>T	ENST00000263816.3	-	29	5027	c.4742G>A	c.(4741-4743)cGa>cAa	p.R1581Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1581					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATGCTGGCTCGCTCGATGCG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	61	65			NA	NA	2		NA											NA				170092528		2203	4300	6503	SO:0001583	missense				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4742G>A	2.37:g.170092528C>T	ENSP00000263816:p.Arg1581Gln	NA	O00711|Q16215	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378336	0.61735	.	.	ENSG00000081479	ENST00000263816	D	0.96300	-3.97	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.103871	0.64402	D	0.000006	D	0.97411	0.9153	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	P	0.57960	0.83	D	0.97434	1.0017	10	0.72032	D	0.01	.	13.6684	0.62409	0.0:0.9199:0.0:0.0801	.	1581	P98164	LRP2_HUMAN	Q	1581	ENSP00000263816:R1581Q	ENSP00000263816:R1581Q	R	-	2	0	LRP2	169800774	1.000000	0.71417	0.990000	0.47175	0.288000	0.27193	2.417000	0.44653	2.793000	0.96121	0.655000	0.94253	CGA	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255231.2		-	ENST00000263816.3	Missense_Mutation	SNP	2 : 170092528 - 170092528 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	251	19
MED16	10025	broad.mit.edu	37	19	879935	879935	+	Splice_Site	SNP	A	A	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:879935A>G	ENST00000312090.6	-	8	1504		c.e8+1		MED16_ENST00000589119.1_Splice_Site|MED16_ENST00000269814.4_Splice_Site|MED16_ENST00000395808.3_Splice_Site|MED16_ENST00000325464.1_Splice_Site|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	NA					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCTCACCTTCCCGTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	11	11			NA	NA	19		NA											NA				879935		2146	4253	6399	SO:0001630	splice_region_variant			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221	10025	10025		WD repeat domain containing	17556	protein-coding gene	gene with protein product		604062	thyroid hormone receptor associated protein 5	THRAP5	NA	10235266, 10198638	Standard	NM_005481	NM_005481	NA	Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000312090.6:c.1353+1T>C	19.37:g.879935A>G		NA	Q6PJT2|Q96AD4|Q96I35|Q9Y652	37		.	.	.	.	.	.	.	.	.	.	A	13.96	2.394216	0.42410	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2279	0.54472	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED16	830935	1.000000	0.71417	0.956000	0.39512	0.330000	0.28571	8.281000	0.89905	1.544000	0.49359	0.443000	0.29094	.	MED16-003	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000457893.2	Intron	-	ENST00000312090.6	Splice_Site	SNP	19 : 879935 - 879935 G PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	108	5
MYO18B	84700	broad.mit.edu	37	22	26164985	26164985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:26164985G>T	ENST00000407587.2	+	4	1271	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D368Y|MYO18B_ENST00000335473.7_Missense_Mutation_p.D368Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	368						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.D368N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTTGGGGGACGATCTGAGAAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											36	40	38			NA	NA	22		NA											NA				26164985		2095	4206	6301	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1102G>T	22.37:g.26164985G>T	ENSP00000386096:p.Asp368Tyr	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.	.	.	.	.	.	.	.	.	.	g	11.39	1.625277	0.28889	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86769	-2.15;-2.15;-2.17	3.98	0.318	0.15867	.	1.705140	0.04097	N	0.312179	T	0.76948	0.4059	N	0.14661	0.345	0.09310	N	1	B;P;P	0.34909	0.344;0.475;0.475	B;B;B	0.35971	0.106;0.215;0.215	T	0.67225	-0.5724	10	0.33940	T	0.23	.	6.4609	0.21956	0.1491:0.3954:0.4555:0.0	.	368;368;368	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	Y	368	ENSP00000441229:D368Y;ENSP00000334563:D368Y;ENSP00000386096:D368Y	ENSP00000334563:D368Y	D	+	1	0	MYO18B	24494985	0.001000	0.12720	0.003000	0.11579	0.090000	0.18270	0.915000	0.28638	0.388000	0.25054	0.306000	0.20318	GAT	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26164985 - 26164985 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	101	5
NUDT14	256281	broad.mit.edu	37	14	105639421	105639421	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105639421G>A	ENST00000392568.2	-	5	699	c.606C>T	c.(604-606)ctC>ctT	p.L202L	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	202	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGATGACGCCGAGGGTCTTGG	0.632		NA								HNSCC(42;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	80	79			NA	NA	14		NA											NA				105639421		2202	4294	6496	SO:0001819	synonymous_variant			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828	256281	256281		Nudix motif containing	20141	protein-coding gene	gene with protein product		609219			NA	12429023	Standard	NM_177533	NM_177533	NA	Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.606C>T	14.37:g.105639421G>A		NA	Q86SJ8	37	CCDS10000.1																																																																																			NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000074544.4		-	ENST00000392568.2	Silent	SNP	14 : 105639421 - 105639421 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	300	37
OR4C6	219432	broad.mit.edu	37	11	55433006	55433006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:55433006G>A	ENST00000314259.3	+	1	393	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGACCGCTACGTGGCCATCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	MET/VAL	1,4399	2.1+/-5.4	0,1,2199	108	99	102		364	2.8	1	11		102	0,8592		0,0,4296	no	missense	OR4C6	NM_001004704.1	21	0,1,6495	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	122/310	55433006	1,12991	2200	4296	6496	SO:0001583	missense			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903	219432	219432		GPCR / Class A : Olfactory receptors	14743	protein-coding gene	gene with protein product					NA		Standard	NM_001004704	NM_001004704	NA	Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.364G>A	11.37:g.55433006G>A	ENSP00000324769:p.Val122Met	NA	B2RP11|Q6IFD2	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830823	0.32329	2.27E-4	0.0	ENSG00000181903	ENST00000314259	T	0.20463	2.07	3.77	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.222920	0.22609	N	0.057844	T	0.19725	0.0474	M	0.69523	2.12	0.21802	N	0.999532	P	0.52170	0.951	B	0.40038	0.317	T	0.27123	-1.0083	10	0.62326	D	0.03	.	4.2775	0.10816	0.219:0.1919:0.5891:0.0	.	122	Q8NH72	OR4C6_HUMAN	M	122	ENSP00000324769:V122M	ENSP00000324769:V122M	V	+	1	0	OR4C6	55189582	0.009000	0.17119	0.983000	0.44433	0.942000	0.58702	0.122000	0.15687	0.604000	0.29930	0.536000	0.68110	GTG	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391504.1		+	ENST00000314259.3	Missense_Mutation	SNP	11 : 55433006 - 55433006 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	669	121
PNLIP	5406	broad.mit.edu	37	10	118315573	118315573	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:118315573C>T	ENST00000369221.2	+	9	901	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	291					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTGATAGCATCGTCAACCCTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	186	195			NA	NA	10		NA											NA				118315573		2203	4300	6503	SO:0001819	synonymous_variant			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	5406	5406	3.1.1.3		9155	protein-coding gene	gene with protein product		246600			NA	1783385	Standard	NM_000936	NM_000936	NA	Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.873C>T	10.37:g.118315573C>T		NA	Q5VSQ2	37	CCDS7594.1																																																																																			PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050524.1		+	ENST00000369221.2	Silent	SNP	10 : 118315573 - 118315573 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	860	90
PODXL2	50512	broad.mit.edu	37	3	127387409	127387409	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:127387409G>A	ENST00000342480.6	+	5	1371	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	444					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AGAAGGAGCAGCACCTTCTCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	21	21			NA	NA	3		NA											NA				127387409		2202	4298	6500	SO:0001819	synonymous_variant			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631	50512	50512			17936	protein-coding gene	gene with protein product	endoglycan				NA	10722749	Standard	NM_015720	NM_015720	NA	Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1332G>A	3.37:g.127387409G>A		NA	Q6UVY4|Q8WUV6	37	CCDS3044.1																																																																																			PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356638.1		+	ENST00000342480.6	Silent	SNP	3 : 127387409 - 127387409 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	70	3
POLR3A	11128	broad.mit.edu	37	10	79761987	79761987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:79761987C>A	ENST00000372371.3	-	17	2464	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	776					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGTGAGGGGGCTGTTGCTCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	63	68			NA	NA	10		NA											NA				79761987		2203	4299	6502	SO:0001583	missense			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606	11128	11128		RNA polymerase subunits	30074	protein-coding gene	gene with protein product		614258			NA	9331371, 12391170	Standard	NM_007055	NM_007055	NA	Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2327G>T	10.37:g.79761987C>A	ENSP00000361446:p.Ser776Ile	NA	Q8IW34|Q8TCW5	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579888	0.96565	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.70631	-0.5	5.49	5.49	0.81192	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	M	0.89658	3.05	0.80722	D	1	D	0.56287	0.975	P	0.59056	0.851	D	0.87645	0.2524	9	.	.	.	-31.3285	19.7347	0.96198	0.0:1.0:0.0:0.0	.	776	O14802	RPC1_HUMAN	I	776	ENSP00000361446:S776I	.	S	-	2	0	POLR3A	79431993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.206000	0.77891	2.746000	0.94184	0.655000	0.94253	AGC	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048923.1		-	ENST00000372371.3	Missense_Mutation	SNP	10 : 79761987 - 79761987 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	36	3
PRRX1	5396	broad.mit.edu	37	1	170699464	170699464	+	Missense_Mutation	SNP	G	G	A	rs148536447		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:170699464G>A	ENST00000367760.3	+	4	1731	c.646G>A	c.(646-648)Gga>Aga	p.G216R	PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron	NM_006902.3	NP_008833.1	P54821	PRRX1_HUMAN	paired related homeobox 1	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTCATAACGGATTCTAACG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ARG/GLY,	1,4405	2.1+/-5.4	0,1,2202	169	169	169		646,	5.7	1	1	dbSNP_134	169	0,8600		0,0,4300	no	missense,intron	PRRX1	NM_006902.3,NM_022716.2	125,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	216/218,	170699464	1,13005	2203	4300	6503	SO:0001583	missense			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132	5396	5396		Homeoboxes / PRD class	9142	protein-coding gene	gene with protein product		167420	paired mesoderm homeo box 1	PMX1	NA	1509260	Standard	NM_006902	NM_006902	NA	Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000367760.3:c.646G>A	1.37:g.170699464G>A	ENSP00000356734:p.Gly216Arg	NA	B5BUM7|O60807	37	CCDS1291.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557335	0.65425	2.27E-4	0.0	ENSG00000116132	ENST00000367760;ENST00000495280	D	0.92299	-3.01	5.67	5.67	0.87782	.	.	.	.	.	D	0.95245	0.8458	.	.	.	0.30000	N	0.816082	D	0.89917	1.0	D	0.87578	0.998	D	0.92454	0.5972	8	0.87932	D	0	.	16.4923	0.84205	0.0:0.0:1.0:0.0	.	216	P54821-2	.	R	216;61	ENSP00000356734:G216R	ENSP00000239461:G216R	G	+	1	0	PRRX1	168966088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.353000	0.34045	2.677000	0.91161	0.655000	0.94253	GGA	PRRX1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085235.3		+	ENST00000367760.3	Missense_Mutation	SNP	1 : 170699464 - 170699464 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	1386	198
PXT1	222659	broad.mit.edu	37	6	36368246	36368246	+	Silent	SNP	A	A	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36368246A>G	ENST00000454782.2	-	4	768	c.285T>C	c.(283-285)caT>caC	p.H95H		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	12						peroxisome					NA						GAACCATCCTATGATCAATGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	207	224			NA	NA	6		NA											NA				36368246		2203	4300	6503	SO:0001819	synonymous_variant			AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165	222659	222659			18312	protein-coding gene	gene with protein product					NA		Standard	NM_152990	NM_152990	NA	Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.285T>C	6.37:g.36368246A>G		NA		37	CCDS4820.2	.	.	.	.	.	.	.	.	.	.	A	4.071	0.011025	0.07912	.	.	ENSG00000179165	ENST00000459696	.	.	.	4.9	-4.38	0.03622	.	.	.	.	.	T	0.10121	0.0248	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32188	-0.9916	4	.	.	.	-6.1218	5.9208	0.19080	0.2775:0.2882:0.4342:0.0	.	.	.	.	T	19	.	.	I	-	2	0	PXT1	36476224	0.000000	0.05858	0.003000	0.11579	0.737000	0.42083	-1.593000	0.02096	-0.991000	0.03476	0.454000	0.30748	ATA	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357516.2		-	ENST00000454782.2	Silent	SNP	6 : 36368246 - 36368246 G PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	1014	249
RAB6A	5870	broad.mit.edu	37	11	73471653	73471653	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:73471653G>T	ENST00000310653.6	-	1	529	c.28C>A	c.(28-30)Ccg>Acg	p.P10T	RAB6A_ENST00000336083.3_Missense_Mutation_p.P10T|RP11-707G14.1_ENST00000540547.1_RNA|RAB6A_ENST00000541588.1_Missense_Mutation_p.P10T	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	10					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						TTCCTCAGCGGATTCCCGAAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	30	32			NA	NA	11		NA											NA				73471653		2200	4293	6493	SO:0001583	missense			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582	5870	5870		RAB, member RAS oncogene	9786	protein-coding gene	gene with protein product		179513		RAB6	NA		Standard		NM_001243718	NA	Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000310653.6:c.28C>A	11.37:g.73471653G>T	ENSP00000311449:p.Pro10Thr	NA	A8K133|Q5U0A8|Q9UBE4	37	CCDS8223.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084059	0.76642	.	.	ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000541588;ENST00000540771;ENST00000539750;ENST00000535748;ENST00000542366	T;T;T	0.64803	-0.12;-0.12;-0.11	4.89	3.98	0.46160	.	0.057059	0.64402	D	0.000001	T	0.65176	0.2666	L	0.53561	1.675	0.80722	D	1	B;D;B;B	0.53312	0.057;0.959;0.136;0.041	B;P;B;B	0.51615	0.05;0.675;0.059;0.051	T	0.68010	-0.5522	10	0.66056	D	0.02	.	10.9382	0.47257	0.0903:0.0:0.9097:0.0	.	10;10;10;10	Q1W5D8;F5H3K7;P20340;P20340-2	.;.;RAB6A_HUMAN;.	T	10	ENSP00000311449:P10T;ENSP00000336850:P10T;ENSP00000445350:P10T	ENSP00000311449:P10T	P	-	1	0	RAB6A	73149301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.901000	0.75693	1.289000	0.44618	0.650000	0.86243	CCG	RAB6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259240.3		-	ENST00000310653.6	Missense_Mutation	SNP	11 : 73471653 - 73471653 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	102	4
SLC12A3	6559	broad.mit.edu	37	16	56924262	56924262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:56924262G>A	ENST00000438926.2	+	19	2391	c.2362G>A	c.(2362-2364)Gcg>Acg	p.A788T	SLC12A3_ENST00000563236.1_Missense_Mutation_p.A788T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A787T|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A787T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	788					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GATGATGCAGGCGCACAGTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	105	121			NA	NA	16		NA											NA				56924262		2198	4300	6498	SO:0001583	missense				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915	NA	6559		Solute carriers	10912	protein-coding gene	gene with protein product		600968			NA	8812482	Standard		NM_000339	NA	Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000438926.2:c.2362G>A	16.37:g.56924262G>A	ENSP00000402152:p.Ala788Thr	NA	A8MSJ2|C9JNN9	37	CCDS10770.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387157	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.63	3.62	0.41486	.	0.299899	0.36002	N	0.002841	T	0.43986	0.1272	L	0.38838	1.175	0.40083	D	0.976162	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.001;0.003	T	0.25363	-1.0134	9	0.27082	T	0.32	.	9.6378	0.39819	0.0777:0.143:0.7794:0.0	.	787;788;788	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	T	787;788	.	ENSP00000262502:A788T	A	+	1	0	SLC12A3	55481763	1.000000	0.71417	0.970000	0.41538	0.411000	0.31082	4.456000	0.60081	0.683000	0.31428	0.655000	0.94253	GCG	SLC12A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257064.2		+	ENST00000438926.2	Missense_Mutation	SNP	16 : 56924262 - 56924262 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	358	6
SMG1	23049	broad.mit.edu	37	16	18882786	18882786	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:18882786C>A	ENST00000446231.2	-	16	2614	c.2202G>T	c.(2200-2202)tgG>tgT	p.W734C	SMG1_ENST00000389467.3_Missense_Mutation_p.W734C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	734	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTCCAAAGCCCAAGTCATTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	48	50			NA	NA	16		NA											NA				18882786		1812	4083	5895	SO:0001583	missense			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2202G>T	16.37:g.18882786C>A	ENSP00000402515:p.Trp734Cys	NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287871	0.80803	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.17691	2.26;2.26	5.21	5.21	0.72293	Armadillo-type fold (1);	0.091723	0.47455	U	0.000236	T	0.31482	0.0798	M	0.65975	2.015	0.80722	D	1	D	0.63046	0.992	P	0.49561	0.615	T	0.08911	-1.0699	10	0.87932	D	0	.	19.116	0.93340	0.0:1.0:0.0:0.0	.	734	Q96Q15	SMG1_HUMAN	C	734	ENSP00000402515:W734C;ENSP00000374118:W734C	ENSP00000374118:W734C	W	-	3	0	SMG1	18790287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.857000	0.69525	2.589000	0.87451	0.555000	0.69702	TGG	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Missense_Mutation	SNP	16 : 18882786 - 18882786 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	137	6
STK36	27148	broad.mit.edu	37	2	219545333	219545333	+	Silent	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219545333C>A	ENST00000295709.3	+	10	1423	c.1144C>A	c.(1144-1146)Cgg>Agg	p.R382R	STK36_ENST00000440309.1_Silent_p.R382R|STK36_ENST00000392106.2_Silent_p.R382R|STK36_ENST00000392105.3_Silent_p.R382R	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	382					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGGGAAAACCGGACCACCCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	51	49			NA	NA	2		NA											NA				219545333		2203	4300	6503	SO:0001819	synonymous_variant			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482	27148	27148			17209	protein-coding gene	gene with protein product	fused homolog (Drosophila)	607652	serine/threonine kinase 36 (fused homolog, Drosophila)		NA	10806483	Standard		NM_001243313	NA	Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1144C>A	2.37:g.219545333C>A		NA	B7WPM3|Q8TC32|Q9H9N9|Q9UF35|Q9ULE2	37	CCDS2421.1																																																																																			STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256723.2		+	ENST00000295709.3	Silent	SNP	2 : 219545333 - 219545333 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	192	9
SULT1C2	6819	broad.mit.edu	37	2	108917367	108917367	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:108917367G>A	ENST00000437390.2	+	4	570	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SULT1C2_ENST00000326853.5_Silent_p.P128P|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000251481.6_Silent_p.P117P			O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	117					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCTGCCACCGTCTTTCTGGG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	160	156			NA	NA	2		NA											NA				108917367		2203	4300	6503	SO:0001819	synonymous_variant			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203	6819	6819		Sulfotransferases, cytosolic	11456	protein-coding gene	gene with protein product		602385	sulfotransferase family, cytosolic, 1C, member 1	SULT1C1	NA	9169148, 10783263	Standard	NM_176825	NM_001056	NA	Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.393G>A	2.37:g.108917367G>A		NA	B2R813|Q53SG4	37		.	.	.	.	.	.	.	.	.	.	G	6.403	0.442392	0.12164	.	.	ENSG00000198203	ENST00000438339;ENST00000409067	T	0.07021	3.23	4.31	-2.98	0.05513	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.35515	D	0.800953	.	.	.	.	.	.	T	0.44982	-0.9292	5	.	.	.	.	2.1177	0.03718	0.4494:0.1239:0.3063:0.1205	.	.	.	.	I	97;114	ENSP00000401996:V97I	.	V	+	1	0	SULT1C2	108283799	0.000000	0.05858	0.267000	0.24556	0.795000	0.44927	-2.523000	0.00949	-0.761000	0.04670	-0.312000	0.09012	GTC	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329969.2		+	ENST00000437390.2	Silent	SNP	2 : 108917367 - 108917367 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	826	148
SVEP1	79987	broad.mit.edu	37	9	113205879	113205879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:113205879C>A	ENST00000374469.1	-	27	4779	c.4516G>T	c.(4516-4518)Gat>Tat	p.D1506Y	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000401783.2_Missense_Mutation_p.D1529Y			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1529	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATTTCCCATCGATATAGACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	82	81			NA	NA	9		NA											NA				113205879		1947	4149	6096	SO:0001583	missense			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.4516G>T	9.37:g.113205879C>A	ENSP00000363593:p.Asp1506Tyr	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.150519	0.78001	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.81415	-0.5;-0.5;-1.49	5.46	5.46	0.80206	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.048935	0.85682	D	0.000000	D	0.93478	0.7919	H	0.96080	3.765	0.45216	D	0.998223	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95016	0.8156	10	0.87932	D	0	.	19.6743	0.95924	0.0:1.0:0.0:0.0	.	1529;1529	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Y	1529;1506;1529	ENSP00000384917:D1529Y;ENSP00000363593:D1506Y;ENSP00000304118:D1529Y	ENSP00000304118:D1529Y	D	-	1	0	SVEP1	112245700	1.000000	0.71417	0.982000	0.44146	0.866000	0.49608	5.576000	0.67437	2.721000	0.93114	0.655000	0.94253	GAT	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Missense_Mutation	SNP	9 : 113205879 - 113205879 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	227	28
TMEM18	129787	broad.mit.edu	37	2	669842	669842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:669842G>A	ENST00000405941.3	-	4	315	c.251C>T	c.(250-252)tCg>tTg	p.S84L	TMEM18_ENST00000355654.2_Missense_Mutation_p.S68L|TMEM18_ENST00000281017.3_Missense_Mutation_p.S81L			Q96B42	TMM18_HUMAN	transmembrane protein 18	81					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGGTATTTCGAAAATAATCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	2		NA											NA				669842		2203	4300	6503	SO:0001583	missense			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353	129787	129787			25257	protein-coding gene	gene with protein product		613220			NA	12477932	Standard	NM_152834	NM_152834	NA	Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000405941.3:c.251C>T	2.37:g.669842G>A	ENSP00000384347:p.Ser84Leu	NA	D6W4X9|Q8N5H2|Q9NTH3	37		.	.	.	.	.	.	.	.	.	.	G	18.95	3.731026	0.69074	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.7	5.7	0.88788	.	0.118870	0.64402	D	0.000015	T	0.79203	0.4406	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	P	0.58172	0.834	T	0.82034	-0.0657	9	0.52906	T	0.07	-8.7508	15.4029	0.74855	0.0:0.0:1.0:0.0	.	81	Q96B42	TMM18_HUMAN	L	81;68;84	.	ENSP00000281017:S81L	S	-	2	0	TMEM18	659842	1.000000	0.71417	0.401000	0.26359	0.148000	0.21650	8.083000	0.89515	2.705000	0.92388	0.549000	0.68633	TCG	TMEM18-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322429.1		-	ENST00000405941.3	Missense_Mutation	SNP	2 : 669842 - 669842 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	184	24
TMX1	81542	broad.mit.edu	37	14	51716045	51716045	+	Splice_Site	SNP	A	A	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:51716045A>T	ENST00000457354.2	+	5	570	c.445A>T	c.(445-447)Atg>Ttg	p.M149L		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	149					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TATTTTTAGGATGAGTAGTAT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	87	89			NA	NA	14		NA											NA				51716045		1807	4062	5869	SO:0001630	splice_region_variant			AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23			81542	81542		Protein disulfide isomerases	15487	protein-coding gene	gene with protein product	thioredoxin-related transmembrane protein, protein disulfide isomerase family A, member 11	610527	thioredoxin domain-containing, thioredoxin domain containing, thioredoxin domain containing 1	TXNDC, TXNDC1	NA	11152479	Standard	NM_030755	NM_030755	NA	Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.444-1A>T	14.37:g.51716045A>T		NA	B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	37	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858882	0.71834	.	.	ENSG00000139921	ENST00000457354	T	0.63913	-0.07	5.75	5.75	0.90469	Thioredoxin-like fold (1);	0.070753	0.85682	D	0.000000	T	0.65312	0.2679	M	0.66506	2.035	0.58432	D	0.999995	P;P	0.45283	0.537;0.855	B;P	0.48334	0.391;0.574	T	0.64015	-0.6506	10	0.28530	T	0.3	-22.9158	10.7708	0.46321	0.8579:0.0:0.0:0.1421	.	65;149	B4DZX7;Q9H3N1	.;TMX1_HUMAN	L	149	ENSP00000393316:M149L	ENSP00000393316:M149L	M	+	1	0	TMX1	50785795	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.210000	0.65214	2.185000	0.69588	0.533000	0.62120	ATG	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411206.1	Missense_Mutation	+	ENST00000457354.2	Splice_Site	SNP	14 : 51716045 - 51716045 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	465	46
TP53	7157	broad.mit.edu	37	17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:7577520A>C	ENST00000420246.2	-	7	893	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000413465.2_Missense_Mutation_p.I254S|TP53_ENST00000359597.4_Missense_Mutation_p.I254S|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000269305.4_Missense_Mutation_p.I254S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	254	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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)		CAGTGTGATGATGGTGAGGAT	0.587		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	35	Substitution - Missense(15)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(9)|large_intestine(7)|bone(4)|central_nervous_system(3)|stomach(2)|oesophagus(2)|breast(2)|ovary(2)|endometrium(1)|skin(1)|lung(1)|liver(1)											148	106	120			NA	NA	17		NA											NA				7577520		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.761T>G	17.37:g.7577520A>C	ENSP00000391127:p.Ile254Ser	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	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426944	0.62733	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.84219	2.685	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.951;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.968;1.0;1.0;0.997	D	0.96936	0.9684	10	0.87932	D	0	-30.4212	12.3101	0.54924	1.0:0.0:0.0:0.0	.	254;254;254;254;254	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	254;254;254;254;254;254;243;122	ENSP00000410739:I254S;ENSP00000352610:I254S;ENSP00000269305:I254S;ENSP00000398846:I254S;ENSP00000391127:I254S;ENSP00000391478:I254S;ENSP00000425104:I122S	ENSP00000269305:I254S	I	-	2	0	TP53	7518245	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577520 - 7577520 C PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	372	85
TRPM4	54795	broad.mit.edu	37	19	49713525	49713525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49713525G>A	ENST00000252826.5	+	21	3317	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	TRPM4_ENST00000427978.2_Missense_Mutation_p.R919H|TRPM4_ENST00000355712.5_Missense_Mutation_p.R710H	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1064					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CAGCGTTACCGCCTCATCCGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	19		NA											NA				49713525		2203	4300	6503	SO:0001583	missense			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529	54795	54795		Voltage-gated ion channels / Transient receptor potential cation channels	17993	protein-coding gene	gene with protein product		606936			NA	11535825, 16382100	Standard	NM_017636	NM_017636	NA	Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3191G>A	19.37:g.49713525G>A	ENSP00000252826:p.Arg1064His	NA	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803763	0.50315	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.43294	0.95;0.95;0.95	5.41	5.41	0.78517	.	0.224765	0.45361	D	0.000374	T	0.24812	0.0602	L	0.28458	0.855	0.27576	N	0.949747	P;P;P;P	0.43519	0.809;0.575;0.575;0.626	B;B;B;B	0.34722	0.092;0.188;0.123;0.092	T	0.16660	-1.0395	10	0.22109	T	0.4	-22.6616	8.6965	0.34298	0.1643:0.0:0.8357:0.0	.	710;890;919;1064	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	H	1064;919;710	ENSP00000252826:R1064H;ENSP00000407492:R919H;ENSP00000347944:R710H	ENSP00000252826:R1064H	R	+	2	0	TRPM4	54405337	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.257000	0.51500	2.704000	0.92352	0.491000	0.48974	CGC	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465543.2		+	ENST00000252826.5	Missense_Mutation	SNP	19 : 49713525 - 49713525 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	723	164
UBQLN2	29978	broad.mit.edu	37	X	56590932	56590932	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:56590932C>G	ENST00000338222.5	+	1	907	c.626C>G	c.(625-627)cCa>cGa	p.P209R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	209						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATGGCTAATCCACAGATGCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(104;218 1492 6022 10838 28884)							NA				0													64	61	62			NA	NA	X		NA											NA				56590932		2203	4300	6503	SO:0001583	missense			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021	29978	29978		Ubiquilin family	12509	protein-coding gene	gene with protein product	NEDD4 binding protein 4	300264			NA	10675567	Standard	NM_013444	NM_013444	NA	Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.626C>G	X.37:g.56590932C>G	ENSP00000345195:p.Pro209Arg	NA	O94798|Q5D027|Q9H3W6|Q9HAZ4	37	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988504	0.53934	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.29655	1.56	4.89	4.89	0.63831	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.64360	0.2591	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	0.969;1.0	P;D	0.97110	0.903;1.0	T	0.73675	-0.3908	10	0.72032	D	0.01	-5.6539	14.6449	0.68754	0.0:1.0:0.0:0.0	.	209;209	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	R	209	ENSP00000345195:P209R	ENSP00000345195:P209R	P	+	2	0	UBQLN2	56607657	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.604000	0.82830	2.428000	0.82296	0.600000	0.82982	CCA	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056891.1		+	ENST00000338222.5	Missense_Mutation	SNP	X : 56590932 - 56590932 G PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	208	38
UQCC1	55245	broad.mit.edu	37	20	33962046	33962046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:33962046G>A	ENST00000374380.2	-	3	210	c.143C>T	c.(142-144)gCg>gTg	p.A48V	UQCC1_ENST00000542501.1_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.A116V|UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000374385.5_Missense_Mutation_p.A116V|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.A116V|UQCC1_ENST00000397556.3_Missense_Mutation_p.A17V|UQCC1_ENST00000359226.2_Intron	NM_001184977.1	NP_001171906.1			ubiquinol-cytochrome c reductase complex assembly factor 1	116											NA						GCGCAGGGCCGCAATCTTAAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	20		NA											NA				33962046		2203	4300	6503	SO:0001583	missense			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019	55245	55245		Mitochondrial respiratory chain complex assembly factors	15891	protein-coding gene	gene with protein product	Basic FGF-repressed Zic-binding protein, cytochrome B protein synthesis 3 homolog (S. cerevisiae)	611797	chromosome 20 open reading frame 44, ubiquinol-cytochrome c reductase complex chaperone	C20orf44, UQCC	NA		Standard	NM_018244	NM_018244	NA	Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374380.2:c.143C>T	20.37:g.33962046G>A	ENSP00000363501:p.Ala48Val	NA		37	CCDS54458.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920808	0.73213	.	.	ENSG00000101019	ENST00000374384;ENST00000374380;ENST00000374385;ENST00000397556;ENST00000424405;ENST00000438533;ENST00000397554	T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.71581	2.175	0.80722	D	1	P;D;D;D;P	0.89917	0.806;0.998;1.0;0.998;0.622	B;P;D;P;B	0.75484	0.133;0.852;0.986;0.852;0.14	T	0.78695	-0.2104	10	0.51188	T	0.08	0.7242	16.1341	0.81471	0.0:0.0:1.0:0.0	.	48;108;116;116;116	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1	.;.;.;.;UQCC_HUMAN	V	116;48;116;17;84;130;116	ENSP00000363505:A116V;ENSP00000363501:A48V;ENSP00000363506:A116V;ENSP00000380688:A17V;ENSP00000399713:A84V;ENSP00000398531:A130V;ENSP00000380686:A116V	ENSP00000363501:A48V	A	-	2	0	UQCC	33425460	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	8.376000	0.90138	2.540000	0.85666	0.557000	0.71058	GCG	UQCC1-018	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000125984.1		-	ENST00000374380.2	Missense_Mutation	SNP	20 : 33962046 - 33962046 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	481	7
VPS13B	157680	broad.mit.edu	37	8	100791108	100791108	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:100791108T>C	ENST00000358544.2	+	42	7814	c.7703T>C	c.(7702-7704)gTg>gCg	p.V2568A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2543A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2568					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAGTGTGGTGAAACCCTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													134	121	126			NA	NA	8		NA											NA				100791108		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7703T>C	8.37:g.100791108T>C	ENSP00000351346:p.Val2568Ala	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501880	0.85176	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72835	-0.69;-0.69	5.44	5.44	0.79542	.	0.073471	0.53938	D	0.000049	T	0.81456	0.4826	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.72625	0.913;0.978	D	0.83533	0.0092	10	0.87932	D	0	.	15.4875	0.75578	0.0:0.0:0.0:1.0	.	2543;2568	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	2543;2568	ENSP00000349685:V2543A;ENSP00000351346:V2568A	ENSP00000349685:V2543A	V	+	2	0	VPS13B	100860284	1.000000	0.71417	0.937000	0.37676	0.896000	0.52359	6.126000	0.71635	2.063000	0.61619	0.533000	0.62120	GTG	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100791108 - 100791108 C PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	665	10
WASL	8976	broad.mit.edu	37	7	123349222	123349222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:123349222G>A	ENST00000223023.4	-	2	505	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	58	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTTCTTTGACCACATACA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	80	82			NA	NA	7		NA											NA				123349222		2203	4300	6503	SO:0001583	missense			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299	8976	8976			12735	protein-coding gene	gene with protein product		605056			NA	9422512, 9322739	Standard	NM_003941	NM_003941	NA	Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.173C>T	7.37:g.123349222G>A	ENSP00000223023:p.Ser58Leu	NA	Q7Z746	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860939	0.71834	.	.	ENSG00000106299	ENST00000223023	D	0.99422	-5.88	5.58	4.68	0.58851	EVH1 (3);Pleckstrin homology-type (1);	0.524667	0.20818	N	0.085115	D	0.97867	0.9299	L	0.42245	1.32	0.29642	N	0.84463	B	0.02656	0.0	B	0.08055	0.003	D	0.95667	0.8720	10	0.54805	T	0.06	-15.64	10.472	0.44642	0.1453:0.0:0.8547:0.0	.	58	O00401	WASL_HUMAN	L	58	ENSP00000223023:S58L	ENSP00000223023:S58L	S	-	2	0	WASL	123136458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.849000	0.48286	2.789000	0.95967	0.655000	0.94253	TCA	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348522.1		-	ENST00000223023.4	Missense_Mutation	SNP	7 : 123349222 - 123349222 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	556	49
ZHX3	23051	broad.mit.edu	37	20	39830760	39830760	+	Missense_Mutation	SNP	G	G	A	rs148495510		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:39830760G>A	ENST00000309060.3	-	4	3212	c.2797C>T	c.(2797-2799)Cgt>Tgt	p.R933C	ZHX3_ENST00000559234.1_Missense_Mutation_p.R933C|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.R933C|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R933C|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.R933C			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	933					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCAGGGACACGGGGCTCCCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	CYS/ARG	0,4406		0,0,2203	91	83	85		2797	-2.4	0	20	dbSNP_134	85	1,8599		0,1,4299	no	missense	ZHX3	NM_015035.3	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	933/957	39830760	1,13005	2203	4300	6503	SO:0001583	missense			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306	23051	23051		Zinc fingers, C2H2-type, Homeoboxes / ZF class	15935	protein-coding gene	gene with protein product		609598	triple homeobox 1	TIX1	NA	9455477	Standard	NM_015035	XM_005260343	NA	Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2797C>T	20.37:g.39830760G>A	ENSP00000312222:p.Arg933Cys	NA	E1P5W5|O43145	37	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.58|16.58	3.162238|3.162238	0.57368|0.57368	0.0|0.0	1.16E-4|1.16E-4	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262	T|T;T	0.09817|0.10477	2.94|2.87;2.87	6.02|6.02	-2.37|-2.37	0.06643|0.06643	.|.	.|1.070770	.|0.07293	.|N	.|0.872760	T|T	0.03695|0.03695	0.0105|0.0105	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40000	.|0.698;0.698	.|B;B	.|0.27796	.|0.083;0.083	T|T	0.28996|0.28996	-1.0026|-1.0026	7|10	0.56958|0.59425	D|D	0.05|0.04	2.5672|2.5672	3.3151|3.3151	0.07030|0.07030	0.1075:0.3462:0.33:0.2163|0.1075:0.3462:0.33:0.2163	.|.	.|933;933	.|A8K8Q0;Q9H4I2	.|.;ZHX3_HUMAN	L|C	641|933;933;933;711	ENSP00000405421:P641L|ENSP00000362360:R933C;ENSP00000442290:R933C	ENSP00000405421:P641L|ENSP00000312222:R933C	P|R	-|-	2|1	0|0	ZHX3|ZHX3	39264174|39264174	.|.	.|.	0.004000|0.004000	0.12327|0.12327	0.942000|0.942000	0.58702|0.58702	.|.	.|.	-1.152000|-1.152000	0.02832|0.02832	-0.256000|-0.256000	0.11100|0.11100	CCG|CGT	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079262.3		-	ENST00000309060.3	Missense_Mutation	SNP	20 : 39830760 - 39830760 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	522	56
ZMYND8	23613	broad.mit.edu	37	20	45839477	45839477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:45839477C>T	ENST00000458360.2	-	21	3143	c.3094G>A	c.(3094-3096)Gat>Aat	p.D1032N	ZMYND8_ENST00000311275.7_Missense_Mutation_p.D1164N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D1212N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D1083N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D1114N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D1219N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D1113N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D1166N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D1164N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D1146N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D1192N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D1138N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D1112N	NM_001281771.1	NP_001268700.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1164							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGTTGTGATCGGAACGTGTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	179	188			NA	NA	20		NA											NA				45839477		2203	4300	6503	SO:0001583	missense			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040	23613	23613		Zinc fingers, MYND-type, Zinc fingers, PHD-type	9397	protein-coding gene	gene with protein product		615713	protein kinase C binding protein 1	PRKCBP1	NA		Standard	NM_183047	NM_001281769	NA	Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000458360.2:c.3094G>A	20.37:g.45839477C>T	ENSP00000392964:p.Asp1032Asn	NA	B7Z680|E1P5U5|Q13517|Q2HXV2|Q2HXV8|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.926139|1.926139	0.34002|0.34002	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D|.	0.90444|.	-1.72;-1.6;-1.72;-1.61;-1.71;-1.7;-1.69;-2.67;-1.71;-1.84;-1.72|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.398191|.	0.22055|.	N|.	0.065245|.	T|T	0.35098|0.35098	0.0920|0.0920	N|N	0.22421|0.22421	0.69|0.69	0.20926|0.20926	N|N	0.999822|0.999822	B;P;B;P;B;B;B;B;B;B;B;P;P;B;P|.	0.42409|.	0.002;0.482;0.074;0.482;0.233;0.001;0.373;0.233;0.305;0.305;0.305;0.555;0.779;0.0;0.555|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.40066|.	0.0;0.152;0.014;0.152;0.038;0.002;0.052;0.072;0.045;0.045;0.032;0.033;0.318;0.001;0.033|.	T|T	0.20739|0.20739	-1.0266|-1.0266	10|5	0.72032|.	D|.	0.01|.	4.4285|4.4285	12.7927|12.7927	0.57543|0.57543	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	1032;1219;1114;1212;1146;1113;1138;1166;1164;1083;1141;1112;1085;1066;1164|.	B7ZM62;F5H0X3;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	N|Q	1113;1164;1032;1147;1213;1138;1164;1219;1192;1083;1166;1114;1112|1073	ENSP00000354166:D1113N;ENSP00000312237:D1164N;ENSP00000392964:D1032N;ENSP00000335537:D1138N;ENSP00000379577:D1164N;ENSP00000439800:D1219N;ENSP00000348246:D1192N;ENSP00000396725:D1083N;ENSP00000418210:D1166N;ENSP00000361093:D1114N;ENSP00000443086:D1112N|.	ENSP00000262975:D1147N|.	D|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45272884|45272884	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.036000|0.036000	0.12997|0.12997	3.683000|3.683000	0.54663|0.54663	2.399000|2.399000	0.81585|0.81585	0.462000|0.462000	0.41574|0.41574	GAT|CGA	ZMYND8-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354388.1		-	ENST00000458360.2	Missense_Mutation	SNP	20 : 45839477 - 45839477 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	606	57
ZNF142	7701	broad.mit.edu	37	2	219503301	219503301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219503301G>A	ENST00000449707.1	-	10	5246	c.4825C>T	c.(4825-4827)Cgc>Tgc	p.R1609C	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1609C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCATGATGGCGCAGGCCAGCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(170;867 1942 8995 15834 18053)							NA				0													67	76	73			NA	NA	2		NA											NA				219503301		2165	4261	6426	SO:0001583	missense			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568	7701	7701		Zinc fingers, C2H2-type	12927	protein-coding gene	gene with protein product		604083	zinc finger protein 142 (clone pHZ-49)		NA		Standard	NM_005081	NM_001105537	NA	Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4825C>T	2.37:g.219503301G>A	ENSP00000408643:p.Arg1609Cys	NA	Q92510	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491651	0.84962	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.15952	2.38;2.38	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.02156	-1.1204	10	0.38643	T	0.18	-50.1852	20.1133	0.97917	0.0:0.0:1.0:0.0	.	1609;1446	P52746;A8MWU9	ZN142_HUMAN;.	C	1609	ENSP00000408643:R1609C;ENSP00000398798:R1609C	ENSP00000398798:R1609C	R	-	1	0	ZNF142	219211545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.267000	0.72546	2.758000	0.94735	0.609000	0.83330	CGC	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336833.1		-	ENST00000449707.1	Missense_Mutation	SNP	2 : 219503301 - 219503301 A PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	374	35
ZNF493	284443	broad.mit.edu	37	19	21606442	21606442	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:21606442C>T	ENST00000392288.2	+	4	1090	c.981C>T	c.(979-981)ggC>ggT	p.G327G	ZNF493_ENST00000355504.4_Silent_p.G199G|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAGAATGTGGCAAAGCCTTTA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	36			NA	NA	19		NA											NA				21606442		2202	4296	6498	SO:0001819	synonymous_variant			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268	284443	284443		Zinc fingers, C2H2-type, -	23708	protein-coding gene	gene with protein product					NA		Standard	NM_175910	NM_001076678	NA	Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000392288.2:c.981C>T	19.37:g.21606442C>T		NA	Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965	37	CCDS42536.1																																																																																			ZNF493-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280562.1		+	ENST00000392288.2	Silent	SNP	19 : 21606442 - 21606442 T PAAD-TCGA-IB-7893-Tumor-SM-2RBJW	410	29
