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
ADH1A	124	broad.mit.edu	37	4	100208113	100208113	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:100208113G>A	ENST00000209668.2	-	3	266	c.153C>T	c.(151-153)gaC>gaT	p.D51D	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	51					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TAACCACGTGGTCATCTGTGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	135	141			NA	NA	4		NA											NA				100208113		2203	4300	6503	SO:0001819	synonymous_variant			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	124	124	1.1.1.1	Alcohol dehydrogenases	249	protein-coding gene	gene with protein product		103700		ADH1	NA	3006456	Standard	NM_000667	NM_000667	NA	Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.153C>T	4.37:g.100208113G>A		NA	A8K3E3|Q17R68	37	CCDS3648.1																																																																																			ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253669.1		-	ENST00000209668.2	Silent	SNP	4 : 100208113 - 100208113 A PAAD-TCGA-US-A776-Tumor-SM-5437B	746	42
ADSSL1	122622	broad.mit.edu	37	14	105207231	105207231	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105207231A>G	ENST00000332972.5	+	7	928	c.769A>G	c.(769-771)Att>Gtt	p.I257V	ADSSL1_ENST00000330877.2_Missense_Mutation_p.I214V	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	214					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGAAATAGACATTGAAGGCCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	189	188			NA	NA	14		NA											NA				105207231		2203	4300	6503	SO:0001583	missense			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100	122622	122622			20093	protein-coding gene	gene with protein product		612498			NA		Standard		NM_199165	NA	Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.769A>G	14.37:g.105207231A>G	ENSP00000333019:p.Ile257Val	NA	Q86TT6|Q8N714	37	CCDS9991.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.055552	0.00390	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.38240	1.15;1.15	4.77	-2.33	0.06724	.	0.405998	0.24891	N	0.034766	T	0.10252	0.0251	N	0.02169	-0.655	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33085	-0.9882	10	0.02654	T	1	-2.6136	10.9376	0.47253	0.8333:0.0:0.1667:0.0	.	257;214	Q8N142-2;Q8N142	.;PURA1_HUMAN	V	214;257	ENSP00000331260:I214V;ENSP00000333019:I257V	ENSP00000331260:I214V	I	+	1	0	ADSSL1	104278276	0.001000	0.12720	0.000000	0.03702	0.166000	0.22503	0.552000	0.23376	-0.770000	0.04614	-0.290000	0.09829	ATT	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410531.1		+	ENST00000332972.5	Missense_Mutation	SNP	14 : 105207231 - 105207231 G PAAD-TCGA-US-A776-Tumor-SM-5437B	1070	45
AIFM3	150209	broad.mit.edu	37	22	21332002	21332002	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:21332002C>T	ENST00000399167.2	+	15	1536	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	AIFM3_ENST00000333607.6_Silent_p.A432A|AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000405089.1_Silent_p.A438A|AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3	NA										breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTGCCCGCCACAGGCTTCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	22		NA											NA				21332002		2203	4300	6503	SO:0001819	synonymous_variant			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773	150209	150209			26398	protein-coding gene	gene with protein product					NA	15764604	Standard	NM_144704	NM_144704	NA	Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1296C>T	22.37:g.21332002C>T		NA		37	CCDS13786.1																																																																																			AIFM3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320150.1		+	ENST00000399167.2	Silent	SNP	22 : 21332002 - 21332002 T PAAD-TCGA-US-A776-Tumor-SM-5437B	457	7
AIM1	202	broad.mit.edu	37	6	106987378	106987378	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:106987378A>T	ENST00000369066.3	+	7	4082	c.3595A>T	c.(3595-3597)Att>Ttt	p.I1199F		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1199	Beta/gamma crystallin 'Greek key' 4.						sugar binding	p.I1199V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGCGTACATTGGATCCAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											133	128	130			NA	NA	6		NA											NA				106987378		2203	4300	6503	SO:0001583	missense			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297	202	202			356	protein-coding gene	gene with protein product	suppression of tumorigenicity 4, beta-gamma crystallin domain containing 1	601797	suppression of tumorigenicity 4 (malignant melanoma)	ST4	NA	1680551, 12693952	Standard		NM_001624	NA	Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3595A>T	6.37:g.106987378A>T	ENSP00000358062:p.Ile1199Phe	NA	O00296|Q5VWJ2	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226532	0.79576	.	.	ENSG00000112297	ENST00000369066	T	0.78595	-1.19	5.66	5.66	0.87406	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.204155	0.50627	D	0.000103	D	0.84584	0.5504	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86093	0.1551	10	0.56958	D	0.05	.	15.9029	0.79397	1.0:0.0:0.0:0.0	.	1199	Q9Y4K1	AIM1_HUMAN	F	1199	ENSP00000358062:I1199F	ENSP00000358062:I1199F	I	+	1	0	AIM1	107094071	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	2.755000	0.47540	2.147000	0.66899	0.533000	0.62120	ATT	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041669.1		+	ENST00000369066.3	Missense_Mutation	SNP	6 : 106987378 - 106987378 T PAAD-TCGA-US-A776-Tumor-SM-5437B	554	195
AKAP6	9472	broad.mit.edu	37	14	33147660	33147660	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:33147660C>G	ENST00000280979.4	+	8	3044	c.2874C>G	c.(2872-2874)agC>agG	p.S958R	AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	958					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGTGGGAAGCAATGGGTAGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(49;821 1200 7288 13647 42351)							NA				0													196	186	190			NA	NA	14		NA											NA				33147660		2203	4300	6503	SO:0001583	missense			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320	9472	9472		A-kinase anchor proteins	376	protein-coding gene	gene with protein product	protein kinase A anchoring protein 6	604691			NA	7721854, 9205841	Standard	NM_004274	NM_004274	NA	Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2874C>G	14.37:g.33147660C>G	ENSP00000280979:p.Ser958Arg	NA	A7E2D4|O15028	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139851	0.56936	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.20463	3.39;2.07;2.12	5.3	4.33	0.51752	.	0.185752	0.48767	D	0.000163	T	0.14056	0.0340	N	0.14661	0.345	0.39331	D	0.965421	P;P	0.50710	0.612;0.938	B;P	0.48524	0.261;0.58	T	0.10730	-1.0617	10	0.54805	T	0.06	-4.9967	2.9876	0.05973	0.0:0.5085:0.0:0.4915	.	958;958	A7E242;Q13023	.;AKAP6_HUMAN	R	958	ENSP00000280979:S958R;ENSP00000450531:S958R;ENSP00000451247:S958R	ENSP00000280979:S958R	S	+	3	2	AKAP6	32217411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	1.142000	0.42291	0.585000	0.79938	AGC	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276617.2		+	ENST00000280979.4	Missense_Mutation	SNP	14 : 33147660 - 33147660 G PAAD-TCGA-US-A776-Tumor-SM-5437B	545	34
ANKRD12	23253	broad.mit.edu	37	18	9279616	9279616	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:9279616G>A	ENST00000262126.4	+	12	6217	c.5977G>A	c.(5977-5979)Gtg>Atg	p.V1993M	ANKRD12_ENST00000383440.2_Missense_Mutation_p.V1970M|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	NA						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTACAAGATGTGGATGATAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	112	108			NA	NA	18		NA											NA				9279616		2203	4300	6503	SO:0001583	missense			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745	23253	23253		Ankyrin repeat domain containing	29135	protein-coding gene	gene with protein product		610616			NA	10048485	Standard	NM_015208	NM_001204056	NA	Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5977G>A	18.37:g.9279616G>A	ENSP00000262126:p.Val1993Met	NA	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117487	0.94385	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.77877	-1.12;-1.13	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.88078	0.2805	10	0.87932	D	0	-9.2931	20.127	0.97984	0.0:0.0:1.0:0.0	.	1970;1993	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	M	1970;1993	ENSP00000372932:V1970M;ENSP00000262126:V1993M	ENSP00000262126:V1993M	V	+	1	0	ANKRD12	9269616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.775000	0.95449	0.585000	0.79938	GTG	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254478.2		+	ENST00000262126.4	Missense_Mutation	SNP	18 : 9279616 - 9279616 A PAAD-TCGA-US-A776-Tumor-SM-5437B	595	14
ANO4	121601	broad.mit.edu	37	12	101336205	101336205	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:101336205G>A	ENST00000392979.3	+	4	604	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.K116K|ANO4_ENST00000538618.1_Silent_p.K282K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	116						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAGATGGAAAGTGTCGAATTG	0.388		NA								HNSCC(74;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	141	141			NA	NA	12		NA											NA				101336205		2203	4300	6503	SO:0001819	synonymous_variant			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572	121601	121601		Ion channels / Chloride channels : Calcium activated : Anoctamins	23837	protein-coding gene	gene with protein product		610111	transmembrane protein 16D	TMEM16D	NA	12739008, 15067359, 24692353	Standard	NM_178826	NM_178826	NA	Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392979.3:c.243G>A	12.37:g.101336205G>A		NA	Q8NAJ0|Q8NB39|Q8NB53	37	CCDS31884.1																																																																																			ANO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409294.2		+	ENST00000392979.3	Silent	SNP	12 : 101336205 - 101336205 A PAAD-TCGA-US-A776-Tumor-SM-5437B	356	283
ANO5	203859	broad.mit.edu	37	11	22297720	22297720	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:22297720A>C	ENST00000324559.8	+	21	2812	c.2495A>C	c.(2494-2496)aAg>aCg	p.K832T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	832						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTGCTGCCAAGATGACCTTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	93	99			NA	NA	11		NA											NA				22297720		2202	4299	6501	SO:0001583	missense			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714	203859	203859		Ion channels / Chloride channels : Calcium activated : Anoctamins	27337	protein-coding gene	gene with protein product		608662	transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive)	TMEM16E, LGMD2L	NA	15067359, 20096397, 24692353	Standard	NM_213599	NM_213599	NA	Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2495A>C	11.37:g.22297720A>C	ENSP00000315371:p.Lys832Thr	NA		37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905181	0.72868	.	.	ENSG00000171714	ENST00000324559	T	0.63580	-0.05	4.96	1.35	0.21983	.	0.222920	0.52532	D	0.000063	T	0.70193	0.3196	M	0.62088	1.915	0.51767	D	0.999933	P	0.50617	0.937	P	0.61940	0.896	T	0.68352	-0.5431	10	0.87932	D	0	.	8.7096	0.34376	0.7783:0.0:0.2217:0.0	.	832	Q75V66	ANO5_HUMAN	T	832	ENSP00000315371:K832T	ENSP00000315371:K832T	K	+	2	0	ANO5	22254296	1.000000	0.71417	0.984000	0.44739	0.858000	0.48976	6.261000	0.72509	0.042000	0.15717	-0.451000	0.05528	AAG	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387615.1		+	ENST00000324559.8	Missense_Mutation	SNP	11 : 22297720 - 22297720 C PAAD-TCGA-US-A776-Tumor-SM-5437B	402	30
ARHGEF3	50650	broad.mit.edu	37	3	56789016	56789016	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:56789016C>T	ENST00000497267.1	-	3	734	c.281G>A	c.(280-282)cGt>cAt	p.R94H	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R129H|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R123H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H			Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	123					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TACCTCCTGACGTTTGATTTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	109	115			NA	NA	3		NA											NA				56789016		2203	4300	6503	SO:0001583	missense			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947	50650	50650		Rho guanine nucleotide exchange factors	683	protein-coding gene	gene with protein product	exchange factor found in platelets and leukemic and neuronal tissues, XPLN, RhoGEF protein	612115			NA	10873612	Standard	NM_019555	NM_019555	NA	Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000497267.1:c.281G>A	3.37:g.56789016C>T	ENSP00000418826:p.Arg94His	NA	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	37		.	.	.	.	.	.	.	.	.	.	C	36	5.619168	0.96649	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.75050	0.93;0.93;0.93;0.93;0.93;0.93;-0.9;-0.9	5.32	5.32	0.75619	Dbl homology (DH) domain (3);	0.056451	0.64402	D	0.000004	D	0.88190	0.6370	M	0.86097	2.795	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.988;0.993;0.997;0.996;0.998	D	0.89160	0.3529	10	0.62326	D	0.03	-2.6874	19.3999	0.94623	0.0:1.0:0.0:0.0	.	129;94;123;155;123;129	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	H	123;155;129;129;94;123;124;141	ENSP00000296315:R123H;ENSP00000341071:R155H;ENSP00000410922:R129H;ENSP00000420420:R129H;ENSP00000418826:R94H;ENSP00000417986:R123H;ENSP00000417087:R124H;ENSP00000420402:R141H	ENSP00000296315:R123H	R	-	2	0	ARHGEF3	56764056	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.770000	0.85390	2.668000	0.90789	0.655000	0.94253	CGT	ARHGEF3-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352435.1		-	ENST00000497267.1	Missense_Mutation	SNP	3 : 56789016 - 56789016 T PAAD-TCGA-US-A776-Tumor-SM-5437B	576	36
ATM	472	broad.mit.edu	37	11	108158373	108158373	+	Nonsense_Mutation	SNP	T	T	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:108158373T>G	ENST00000452508.2	+	28	4229	c.4040T>G	c.(4039-4041)tTa>tGa	p.L1347*	ATM_ENST00000278616.4_Nonsense_Mutation_p.L1347*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1347					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTGGTGGAGTTATTGATGACG	0.348		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0													85	84	84			NA	NA	11		NA											NA				108158373		2201	4298	6499	SO:0001587	stop_gained	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4040T>G	11.37:g.108158373T>G	ENSP00000388058:p.Leu1347*	NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	46|46	12.766491|12.766491	0.99694|0.99694	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508|ENST00000531525	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73536	.|0.3599	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72769	.|-0.4193	.|3	0.02654|.	T|.	1|.	.|.	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|D	1347|17	.|.	ENSP00000278616:L1347X|.	L|Y	+|+	2|1	0|0	ATM|ATM	107663583|107663583	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.973000|0.973000	0.67179|0.67179	7.196000|7.196000	0.77805|0.77805	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTA|TAT	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1		+	ENST00000452508.2	Nonsense_Mutation	SNP	11 : 108158373 - 108158373 G PAAD-TCGA-US-A776-Tumor-SM-5437B	257	225
ATP11B	23200	broad.mit.edu	37	3	182597407	182597407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:182597407C>A	ENST00000323116.5	+	20	2636	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	792					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTGTATTATGCTGTCGTATGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	109	109			NA	NA	3		NA											NA				182597407		2203	4300	6503	SO:0001587	stop_gained			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063	23200	23200		ATPases / P-type	13553	protein-coding gene	gene with protein product		605869	ATPase, Class VI, type 11B		NA	10231032, 11015572	Standard	NM_014616	NM_014616	NA	Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2376C>A	3.37:g.182597407C>A	ENSP00000321195:p.Cys792*	NA	Q96FN1|Q9UKK7	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.000121|5.000121	0.93227|0.93227	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116;ENST00000482070	.|.	.|.	.|.	4.78|4.78	3.9|3.9	0.45041|0.45041	.|.	.|0.098289	.|0.85682	.|D	.|0.000000	T|.	0.31327|.	0.0793|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	10.2941|10.2941	0.43613|0.43613	0.0:0.7862:0.0:0.2138|0.0:0.7862:0.0:0.2138	.|.	.|.	.|.	.|.	D|X	593|792;27	.|.	.|ENSP00000321195:C792X	A|C	+|+	2|3	0|2	ATP11B|ATP11B	184080101|184080101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.236000|1.236000	0.32683|0.32683	1.199000|1.199000	0.43173|0.43173	0.585000|0.585000	0.79938|0.79938	GCT|TGC	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350598.1		+	ENST00000323116.5	Nonsense_Mutation	SNP	3 : 182597407 - 182597407 A PAAD-TCGA-US-A776-Tumor-SM-5437B	345	6
ATP12A	479	broad.mit.edu	37	13	25264838	25264838	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25264838T>A	ENST00000381946.3	+	7	945	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y260N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	260					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATCTGCTTCTATTCCACAAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													164	179	174			NA	NA	13		NA											NA				25264838		2203	4300	6503	SO:0001583	missense			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.778T>A	13.37:g.25264838T>A	ENSP00000371372:p.Tyr260Asn	NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861042	0.91433	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90563	-2.69;-2.69	5.19	5.19	0.71726	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.085871	0.50627	D	0.000110	D	0.89670	0.6782	N	0.16266	0.395	0.58432	D	0.999999	D;D	0.62365	0.966;0.991	P;P	0.61533	0.876;0.89	D	0.91248	0.5027	10	0.87932	D	0	.	13.0401	0.58895	0.0:0.0:0.0:1.0	.	260;260	P54707-2;P54707	.;AT12A_HUMAN	N	260	ENSP00000218548:Y260N;ENSP00000371372:Y260N	ENSP00000218548:Y260N	Y	+	1	0	ATP12A	24162838	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.606000	0.82863	2.173000	0.68751	0.533000	0.62120	TAT	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Missense_Mutation	SNP	13 : 25264838 - 25264838 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1343	68
ATP12A	479	broad.mit.edu	37	13	25272866	25272866	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25272866G>A	ENST00000381946.3	+	12	1750	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R534H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	528					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R528H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCCCCTGAGCGCATCCTAGAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				1	Substitution - Missense(1)	large_intestine(1)											99	95	97			NA	NA	13		NA											NA				25272866		2203	4300	6503	SO:0001583	missense			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1583G>A	13.37:g.25272866G>A	ENSP00000371372:p.Arg528His	NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572470	0.65765	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.80480	-1.38;-1.38	5.72	4.88	0.63580	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062472	0.64402	D	0.000006	D	0.88190	0.6370	M	0.88450	2.955	0.58432	D	0.999999	D;D	0.71674	0.998;0.988	P;P	0.55055	0.767;0.598	D	0.90082	0.4171	10	0.87932	D	0	.	12.5302	0.56111	0.0806:0.0:0.9194:0.0	.	534;528	P54707-2;P54707	.;AT12A_HUMAN	H	534;528	ENSP00000218548:R534H;ENSP00000371372:R528H	ENSP00000218548:R534H	R	+	2	0	ATP12A	24170866	1.000000	0.71417	0.985000	0.45067	0.124000	0.20399	7.849000	0.86908	1.430000	0.47334	0.655000	0.94253	CGC	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Missense_Mutation	SNP	13 : 25272866 - 25272866 A PAAD-TCGA-US-A776-Tumor-SM-5437B	603	316
ATP1B4	23439	broad.mit.edu	37	X	119509336	119509336	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119509336C>T	ENST00000218008.3	+	5	729	c.672C>T	c.(670-672)cgC>cgT	p.R224R	ATP1B4_ENST00000539306.1_Silent_p.R181R|ATP1B4_ENST00000361319.3_Silent_p.R220R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AATTTAAGCGCTCCTTCCTAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	143	150			NA	NA	X		NA											NA				119509336		2203	4300	6503	SO:0001819	synonymous_variant			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892	23439	23439		ATPases / P-type	808	protein-coding gene	gene with protein product	Na,K-ATPase beta m-subunit		ATPase, (Na+)/K+ transporting, beta 4 polypeptide		NA	10456317, 17592128	Standard	NM_001142447	NM_012069	NA	Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.672C>T	X.37:g.119509336C>T		NA	Q17RR0|Q9UN41	37	CCDS48158.1																																																																																			ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058095.1		+	ENST00000218008.3	Silent	SNP	X : 119509336 - 119509336 T PAAD-TCGA-US-A776-Tumor-SM-5437B	293	160
BACH2	60468	broad.mit.edu	37	6	90718567	90718567	+	Translation_Start_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:90718567G>A	ENST00000257749.4	-	0	704				BACH2_ENST00000343122.3_De_novo_Start_OutOfFrame|BACH2_ENST00000537989.1_De_novo_Start_OutOfFrame	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	NA						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAGACATGCCGTTCACACCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	91	92			NA	NA	6		NA											NA				90718567		2203	4300	6503					AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182	60468	60468		BTB/POZ domain containing, basic leucine zipper proteins	14078	protein-coding gene	gene with protein product		605394			NA	10949928, 12829606	Standard	NM_021813	NM_001170794	NA	Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.-4C>T	6.37:g.90718567G>A		NA	E1P518|Q59H70|Q5T793|Q9NTS5	37	CCDS5026.1																																																																																			BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041522.2		-	ENST00000257749.4	De_novo_Start_OutOfFrame	SNP	6 : 90718567 - 90718567 A PAAD-TCGA-US-A776-Tumor-SM-5437B	266	5
BECN1	8678	broad.mit.edu	37	17	40970815	40970815	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40970815C>T	ENST00000361523.4	-	5	473	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	114					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTCAGTCTTCGGCTGAGGTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	73	77			NA	NA	17		NA											NA				40970815		2203	4300	6503	SO:0001583	missense			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581	8678	8678			1034	protein-coding gene	gene with protein product	ATG6 autophagy related 6 homolog (S. cerevisiae)	604378	beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)		NA	9765397	Standard	NM_003766	NM_003766	NA	Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.341G>A	17.37:g.40970815C>T	ENSP00000355231:p.Arg114Gln	NA	O75595|Q9UNA8	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365432	0.41902	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.28895	1.59	5.3	4.34	0.51931	.	0.123692	0.53938	D	0.000053	T	0.24198	0.0586	L	0.41236	1.265	0.80722	D	1	B	0.22211	0.066	B	0.09377	0.004	T	0.04427	-1.0952	10	0.17832	T	0.49	.	14.0369	0.64651	0.0:0.9277:0.0:0.0723	.	114	Q14457	BECN1_HUMAN	Q	114;27	ENSP00000355231:R114Q	ENSP00000355231:R114Q	R	-	2	0	BECN1	38224341	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.577000	0.82486	1.471000	0.48121	-0.136000	0.14681	CGA	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452405.1		-	ENST00000361523.4	Missense_Mutation	SNP	17 : 40970815 - 40970815 T PAAD-TCGA-US-A776-Tumor-SM-5437B	344	35
BPIFB4	149954	broad.mit.edu	37	20	31673895	31673895	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:31673895G>A	ENST00000375483.3	+	5	851	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	284						cytoplasm|extracellular region	lipid binding				NA						ACCATGGACCGCACGGGTTAT	0.592		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	3e-04	SNP								NA				0													118	99	105			NA	NA	20		NA											NA				31673895		2203	4300	6503	SO:0001583	missense			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191	149954	149954		BPI fold containing	16179	protein-coding gene	gene with protein product		615718	chromosome 20 open reading frame 186	C20orf186	NA	11971875, 21787333	Standard	NM_182519	NM_182519	NA	Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.851G>A	20.37:g.31673895G>A	ENSP00000364632:p.Arg284His	NA	Q5TDX6	37	CCDS13213.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.57	3.852447	0.71719	.	.	ENSG00000186191	ENST00000375483	T	0.05580	3.42	3.94	3.94	0.45596	.	0.322425	0.26352	N	0.024879	T	0.08670	0.0215	N	0.08118	0	0.33665	D	0.610209	D	0.76494	0.999	D	0.63877	0.919	T	0.31223	-0.9951	10	0.51188	T	0.08	-8.7129	11.3408	0.49531	0.0:0.0:1.0:0.0	.	284	P59827	BPIB4_HUMAN	H	284	ENSP00000364632:R284H	ENSP00000364632:R284H	R	+	2	0	BPIFB4	31137556	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	2.788000	0.47806	2.028000	0.59812	0.491000	0.48974	CGC	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078655.5		+	ENST00000375483.3	Missense_Mutation	SNP	20 : 31673895 - 31673895 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1413	9
C11orf52	91894	broad.mit.edu	37	11	111796862	111796862	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111796862C>T	ENST00000278601.5	+	4	407	c.311C>T	c.(310-312)gCg>gTg	p.A104V	HSPB2-C11orf52_ENST00000534100.1_3'UTR|C11orf52_ENST00000527286.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	104										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ACAGAGTATGCGACCCTTCGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	70	74			NA	NA	11		NA											NA				111796862		2201	4297	6498	SO:0001583	missense			AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300	91894	91894			30531	protein-coding gene	gene with protein product					NA		Standard	NM_080659	NM_080659	NA	Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.311C>T	11.37:g.111796862C>T	ENSP00000278601:p.Ala104Val	NA		37	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373981	0.82573	.	.	ENSG00000149300	ENST00000278601	T	0.58652	0.32	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000040	T	0.66819	0.2828	L	0.34521	1.04	0.41178	D	0.986213	D	0.89917	1.0	D	0.91635	0.999	T	0.70070	-0.4973	10	0.87932	D	0	-19.5459	15.2968	0.73916	0.0:1.0:0.0:0.0	.	104	Q96A22	CK052_HUMAN	V	104	ENSP00000278601:A104V	ENSP00000278601:A104V	A	+	2	0	C11orf52	111302072	0.992000	0.36948	0.934000	0.37439	0.541000	0.35023	4.038000	0.57318	2.637000	0.89404	0.561000	0.74099	GCG	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391673.1		+	ENST00000278601.5	Missense_Mutation	SNP	11 : 111796862 - 111796862 T PAAD-TCGA-US-A776-Tumor-SM-5437B	220	4
C5orf54	0	broad.mit.edu	37	5	159822466	159822466	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:159822466T>C	ENST00000408953.3	-	2	539	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN		11										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						gtagcgaacatagtcatcatc	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	122	126			NA	NA	5		NA											NA				159822466		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000408953.3:c.32A>G	5.37:g.159822466T>C	ENSP00000386184:p.Tyr11Cys	NA	D3DQJ9|Q9H5S8|Q9UH87	37	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467596	0.43839	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.29142	1.58;1.58	3.19	3.19	0.36642	.	.	.	.	.	T	0.48960	0.1529	M	0.64170	1.965	0.27059	N	0.963595	D	0.89917	1.0	D	0.87578	0.998	T	0.25222	-1.0138	9	0.72032	D	0.01	.	8.1657	0.31226	0.0:0.0:0.0:1.0	.	11	Q8IZ13	CE054_HUMAN	C	11	ENSP00000386184:Y11C;ENSP00000428831:Y11C	ENSP00000386184:Y11C	Y	-	2	0	C5orf54	159755044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	1.706000	0.51276	0.533000	0.62120	TAT	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374143.1		-	ENST00000408953.3	Missense_Mutation	SNP	5 : 159822466 - 159822466 C PAAD-TCGA-US-A776-Tumor-SM-5437B	657	301
C6	729	broad.mit.edu	37	5	41172372	41172372	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:41172372C>T	ENST00000263413.3	-	9	1510	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	C6_ENST00000337836.5_Missense_Mutation_p.V416M|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	416	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTATGTTCCACTTTTGTTTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													303	246	265			NA	NA	5		NA											NA				41172372		2203	4300	6503	SO:0001583	missense			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537	729	729		Complement system	1339	protein-coding gene	gene with protein product		217050			NA		Standard		NM_001115131	NA	Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1246G>A	5.37:g.41172372C>T	ENSP00000263413:p.Val416Met	NA		37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745778	0.69418	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84146	-1.81;-1.81	5.04	4.16	0.48862	Membrane attack complex component/perforin (MACPF) domain (3);	0.379178	0.30820	N	0.008805	D	0.82958	0.5150	N	0.22421	0.69	0.30255	N	0.793737	P	0.52316	0.952	P	0.54924	0.764	T	0.80970	-0.1144	10	0.44086	T	0.13	-3.729	12.8785	0.58003	0.0:0.9193:0.0:0.0807	.	416	P13671	CO6_HUMAN	M	416	ENSP00000338861:V416M;ENSP00000263413:V416M	ENSP00000263413:V416M	V	-	1	0	C6	41208129	0.560000	0.26570	0.046000	0.18839	0.271000	0.26615	3.143000	0.50608	1.229000	0.43630	0.655000	0.94253	GTG	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211592.1		-	ENST00000263413.3	Missense_Mutation	SNP	5 : 41172372 - 41172372 T PAAD-TCGA-US-A776-Tumor-SM-5437B	404	168
C8A	731	broad.mit.edu	37	1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	577	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	55	55			NA	NA	1		NA											NA				57383364		2203	4300	6503	SO:0001583	missense			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131	731	731		Complement system	1352	protein-coding gene	gene with protein product		120950			NA		Standard	NM_000562	NM_000562	NA	Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1730G>A	1.37:g.57383364G>A	ENSP00000354458:p.Arg577Gln	NA	A2RUI4|A2RUI5|Q13668|Q9H130	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063564	0.36373	.	.	ENSG00000157131	ENST00000361249	T	0.52057	0.68	4.82	-6.34	0.01982	.	1.636630	0.02956	N	0.142483	T	0.24736	0.0600	N	0.16478	0.41	0.09310	N	1	P	0.46220	0.874	B	0.35688	0.208	T	0.29882	-0.9997	10	0.21014	T	0.42	0.9078	8.9304	0.35666	0.4956:0.1035:0.4009:0.0	.	577	P07357	CO8A_HUMAN	Q	577	ENSP00000354458:R577Q	ENSP00000354458:R577Q	R	+	2	0	C8A	57155952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.804000	0.01738	-1.030000	0.03312	-0.251000	0.11542	CGG	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022890.1		+	ENST00000361249.3	Missense_Mutation	SNP	1 : 57383364 - 57383364 A PAAD-TCGA-US-A776-Tumor-SM-5437B	325	10
C8A	731	broad.mit.edu	37	1	57333282	57333282	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57333282G>A	ENST00000361249.3	+	2	174	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	26					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTCTTTAGGAGAGTAAGAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	53	54			NA	NA	1		NA											NA				57333282		2203	4300	6503	SO:0001630	splice_region_variant			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131	731	731		Complement system	1352	protein-coding gene	gene with protein product		120950			NA		Standard	NM_000562	NM_000562	NA	Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.78-1G>A	1.37:g.57333282G>A		NA	A2RUI4|A2RUI5|Q13668|Q9H130	37	CCDS606.1																																																																																			C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022890.1	Silent	+	ENST00000361249.3	Splice_Site	SNP	1 : 57333282 - 57333282 A PAAD-TCGA-US-A776-Tumor-SM-5437B	406	56
CAND2	23066	broad.mit.edu	37	3	12858160	12858160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:12858160C>T	ENST00000456430.2	+	10	1770	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	577					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACCCTGGCGCGACTTCGTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(43;676 868 1633 6395 37496)							NA				0								C	stop/ARG,stop/ARG	0,4292		0,0,2146	44	52	49		1729,1450	3.1	0.6	3		49	1,8465		0,1,4232	no	stop-gained,stop-gained	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6378	TT,TC,CC	NA	0.0118,0.0,0.0078	,	577/1237,484/1120	12858160	1,12757	2146	4233	6379	SO:0001587	stop_gained				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712	23066	23066			30689	protein-coding gene	gene with protein product	TBP interacting protein	610403			NA	9734811, 10441524	Standard	XM_371617	NM_012298	NA	Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1729C>T	3.37:g.12858160C>T	ENSP00000387641:p.Arg577*	NA	B9EGM9	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428020	0.83667	0.0	1.18E-4	ENSG00000144712	ENST00000295989;ENST00000456430	.	.	.	5.12	3.12	0.35913	.	0.061071	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0891	10.3459	0.43906	0.5379:0.4621:0.0:0.0	.	.	.	.	X	484;577	.	ENSP00000295989:R484X	R	+	1	2	CAND2	12833160	0.261000	0.24063	0.649000	0.29536	0.195000	0.23768	0.832000	0.27490	1.153000	0.42468	-0.310000	0.09108	CGA	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339856.4		+	ENST00000456430.2	Nonsense_Mutation	SNP	3 : 12858160 - 12858160 T PAAD-TCGA-US-A776-Tumor-SM-5437B	472	71
CARD9	64170	broad.mit.edu	37	9	139262214	139262214	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:139262214G>A	ENST00000371732.5	-	8	1309	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	CARD9_ENST00000371734.3_Missense_Mutation_p.R382C	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	382					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTTGCGCAGCGCGTCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	33	34			NA	NA	9		NA											NA				139262214		2196	4290	6486	SO:0001583	missense			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796	64170	64170			16391	protein-coding gene	gene with protein product		607212			NA	11053425	Standard	NM_052813	NM_052813	NA	Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1144C>T	9.37:g.139262214G>A	ENSP00000360797:p.Arg382Cys	NA	Q5SXM6|Q9H854	37	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428970	0.43122	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.37584	1.19;1.19	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000007	T	0.56848	0.2013	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.60821	-0.7187	10	0.72032	D	0.01	-22.2626	10.565	0.45167	0.0:0.0:0.6812:0.3188	.	278;382;382	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	C	382	ENSP00000360799:R382C;ENSP00000360797:R382C	ENSP00000360797:R382C	R	-	1	0	CARD9	138382035	0.998000	0.40836	0.786000	0.31890	0.082000	0.17680	2.856000	0.48341	2.147000	0.66899	0.655000	0.94253	CGC	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055053.1		-	ENST00000371732.5	Missense_Mutation	SNP	9 : 139262214 - 139262214 A PAAD-TCGA-US-A776-Tumor-SM-5437B	170	61
CASQ2	845	broad.mit.edu	37	1	116247905	116247905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:116247905C>T	ENST00000261448.5	-	9	1086	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	283					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCAGGAATTCGTAGCCATCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	101			NA	NA	1		NA											NA				116247905		2203	4300	6503	SO:0001583	missense			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729	845	845		Protein disulfide isomerases	1513	protein-coding gene	gene with protein product		114251			NA	8406504	Standard	NM_001232	NM_001232	NA	Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.847G>A	1.37:g.116247905C>T	ENSP00000261448:p.Glu283Lys	NA	Q5T1D2|Q8TBW8	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228076	0.95173	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.79033	-1.23;-1.23	5.58	5.58	0.84498	Thioredoxin-like fold (2);	0.047801	0.85682	D	0.000000	D	0.84929	0.5581	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.964	T	0.80841	-0.1202	10	0.20046	T	0.44	-37.1912	19.1719	0.93581	0.0:1.0:0.0:0.0	.	212;283	B4DIB0;O14958	.;CASQ2_HUMAN	K	283;212;237	ENSP00000261448:E283K;ENSP00000403858:E212K	ENSP00000261448:E283K	E	-	1	0	CASQ2	116049428	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.481000	0.81124	2.632000	0.89209	0.655000	0.94253	GAA	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033091.1		-	ENST00000261448.5	Missense_Mutation	SNP	1 : 116247905 - 116247905 T PAAD-TCGA-US-A776-Tumor-SM-5437B	254	42
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873	445571	445571			18519	protein-coding gene	gene with protein product		611080			NA	15233989, 12421752	Standard	NM_201453	XM_005277637	NA	Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		NA		37	CCDS35038.1																																																																																			CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052526.1		+	ENST00000360171.6	Silent	SNP	9 : 70871889 - 70871889 T PAAD-TCGA-US-A776-Tumor-SM-5437B	696	8
CCDC18	343099	broad.mit.edu	37	1	93672863	93672863	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:93672863G>A	ENST00000343253.7	+	9	1619	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	CCDC18_ENST00000401026.3_Missense_Mutation_p.A373T|CCDC18_ENST00000557479.1_Missense_Mutation_p.A491T|CCDC18_ENST00000338949.4_Missense_Mutation_p.A172T|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	373										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCGTGTTGCAGCACAGAATGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	1		NA											NA				93672863		1840	4095	5935	SO:0001583	missense					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483	343099	343099			30370	protein-coding gene	gene with protein product					NA	12601173	Standard	NM_206886	XM_006710609	NA	Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1117G>A	1.37:g.93672863G>A	ENSP00000343377:p.Ala373Thr	NA	Q6ZU17	37		.	.	.	.	.	.	.	.	.	.	G	5.483	0.274139	0.10403	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.83	-2.1	0.07210	.	0.682955	0.15416	N	0.263495	T	0.02047	0.0064	N	0.03115	-0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42447	-0.9451	10	0.25106	T	0.35	.	4.4523	0.11626	0.2998:0.1308:0.4552:0.1142	.	373;491	Q5T9S5;G3V388	CCD18_HUMAN;.	T	373;373;491;172;93	ENSP00000343377:A373T;ENSP00000383808:A373T;ENSP00000451099:A491T;ENSP00000344380:A172T;ENSP00000391151:A93T	ENSP00000344380:A172T	A	+	1	0	CCDC18	93445451	0.853000	0.29707	0.953000	0.39169	0.831000	0.47069	-0.190000	0.09615	-0.659000	0.05359	-0.378000	0.06908	GCA	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382327.1		+	ENST00000343253.7	Missense_Mutation	SNP	1 : 93672863 - 93672863 A PAAD-TCGA-US-A776-Tumor-SM-5437B	410	5
CENPE	1062	broad.mit.edu	37	4	104104440	104104440	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:104104440G>A	ENST00000380026.3	-	10	839	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	CENPE_ENST00000265148.3_Missense_Mutation_p.R251W			Q02224	CENPE_HUMAN	centromere protein E, 312kDa	251	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTTGAGCCGCACACCTGAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	96	97			NA	NA	4		NA											NA				104104440		2203	4300	6503	SO:0001583	missense			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778	1062	1062		Kinesins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1856	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 61	117143	centromere protein E (312kD)		NA	7851898	Standard		NM_001286734	NA	Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000380026.3:c.751C>T	4.37:g.104104440G>A	ENSP00000369365:p.Arg251Trp	NA	A6NKY9|A8K2U7|Q4LE75	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.187967	0.78789	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	4.23	0.50019	Kinesin, motor domain (4);	.	.	.	.	D	0.92071	0.7487	H	0.99011	4.4	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.93802	0.7102	9	0.87932	D	0	.	11.2566	0.49058	0.0839:0.0:0.9161:0.0	.	251;251	Q02224-3;Q02224	.;CENPE_HUMAN	W	251	ENSP00000265148:R251W;ENSP00000369365:R251W;ENSP00000423981:R251W	ENSP00000265148:R251W	R	-	1	2	CENPE	104323889	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.989000	0.56958	2.347000	0.79759	0.650000	0.86243	CGG	CENPE-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000363246.2		-	ENST00000380026.3	Missense_Mutation	SNP	4 : 104104440 - 104104440 A PAAD-TCGA-US-A776-Tumor-SM-5437B	255	5
CENPJ	55835	broad.mit.edu	37	13	25480968	25480968	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25480968T>C	ENST00000381884.4	-	7	1393	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	403					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGTGCTCTGGTTAGTCACTAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	80	81			NA	NA	13		NA											NA				25480968		2203	4300	6503	SO:0001583	missense			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849	55835	55835			17272	protein-coding gene	gene with protein product	centrosomal P4.1-associated protein	609279	microcephaly, primary autosomal recessive 6	MCPH6	NA	11003675, 22699936	Standard	NM_018451	NM_018451	NA	Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1208A>G	13.37:g.25480968T>C	ENSP00000371308:p.Asn403Ser	NA	Q2KHM6|Q5T6R5|Q96KS5|Q9C067	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.471635	0.01044	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.17054	2.3;2.3	5.09	-1.61	0.08399	.	0.965315	0.08613	N	0.919710	T	0.12475	0.0303	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43048	-0.9415	10	0.12103	T	0.63	.	6.8225	0.23864	0.0:0.1472:0.4148:0.438	.	403	Q9HC77	CENPJ_HUMAN	S	403	ENSP00000371308:N403S;ENSP00000441090:N403S	ENSP00000371308:N403S	N	-	2	0	CENPJ	24378968	0.017000	0.18338	0.001000	0.08648	0.629000	0.37895	0.236000	0.17967	-0.400000	0.07656	0.459000	0.35465	AAC	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044209.1		-	ENST00000381884.4	Missense_Mutation	SNP	13 : 25480968 - 25480968 C PAAD-TCGA-US-A776-Tumor-SM-5437B	490	51
CHN2	1124	broad.mit.edu	37	7	29552295	29552295	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:29552295C>T	ENST00000410098.1	+	0	857				CHN2_ENST00000495789.2_Missense_Mutation_p.R464W|CHN2_ENST00000409041.4_Missense_Mutation_p.R315W|CHN2_ENST00000421775.2_Missense_Mutation_p.R257W|CHN2_ENST00000222792.6_Missense_Mutation_p.R451W|CHN2_ENST00000435288.2_Missense_Mutation_p.R175W|CHN2_ENST00000539406.1_Missense_Mutation_p.R526W|CHN2_ENST00000424025.2_Missense_Mutation_p.R270W|CHN2_ENST00000546235.1_Missense_Mutation_p.R436W|CHN2_ENST00000539389.1_Missense_Mutation_p.R307W|CHN2_ENST00000439711.2_Missense_Mutation_p.R269W			P52757	CHIO_HUMAN	chimerin 2	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCATGATATGCGGTACCAAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(1;44 48 13232 18918 31480)							NA				0													86	86	86			NA	NA	7		NA											NA				29552295		2203	4300	6503	SO:0001624	3_prime_UTR_variant			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069	1124	1124		Rho GTPase activating proteins, SH2 domain containing	1944	protein-coding gene	gene with protein product	beta chimerin, chimaerin 2	602857	chimerin (chimaerin) 2		NA	8175705	Standard	NM_004067	XM_005249602	NA	Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000410098.1:c.*854C>T	7.37:g.29552295C>T		NA	Q2M203|Q75MM2	37		.	.	.	.	.	.	.	.	.	.	C	17.36	3.370732	0.61624	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.23348	2.71;2.71;1.91;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.51	4.57	0.56435	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;P;D;D;P;D;P;P;D;P;D	0.91635	0.799;0.936;0.995;0.999;0.857;0.943;0.961;0.872;0.917;0.9;0.711;0.991;0.901;0.991	T	0.67428	-0.5673	10	0.72032	D	0.01	.	13.0612	0.59008	0.2774:0.7225:0.0:0.0	.	244;436;464;526;270;224;243;211;269;257;307;451;315;451	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	W	526;451;175;464;307;436;315;270;269;257	ENSP00000444063:R526W;ENSP00000222792:R451W;ENSP00000400282:R175W;ENSP00000438587:R464W;ENSP00000440526:R307W;ENSP00000442812:R436W;ENSP00000386849:R315W;ENSP00000406337:R270W;ENSP00000387425:R269W;ENSP00000394284:R257W	ENSP00000222792:R451W	R	+	1	2	CHN2	29518820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.281000	0.43452	2.755000	0.94549	0.650000	0.86243	CGG	CHN2-004	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000327538.1		+	ENST00000410098.1	3'UTR	SNP	7 : 29552295 - 29552295 T PAAD-TCGA-US-A776-Tumor-SM-5437B	322	4
CKMT1B	1159	broad.mit.edu	37	15	43888718	43888718	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:43888718G>C	ENST00000441322.1	+	6	1225	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R|CKMT1B_ENST00000300283.6_Missense_Mutation_p.G289R|CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	289	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATTCTGCCGAGGCCTCAAAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	105	101			NA	NA	15		NA											NA				43888718		2148	4298	6446	SO:0001583	missense			AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	1159	1159	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	creatine kinase, mitochondrial 1 (ubiquitous)	CKMT, CKMT1	NA		Standard	NM_020990	XM_005254150	NA	Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.865G>C	15.37:g.43888718G>C	ENSP00000413255:p.Gly289Arg	NA	B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	37	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918262	0.73098	.	.	ENSG00000237289	ENST00000300283;ENST00000450086;ENST00000441322;ENST00000413657;ENST00000438947	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.49	4.49	0.54785	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.045722	0.85682	D	0.000000	T	0.51381	0.1671	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;0.999;0.997;1.0	T	0.68746	-0.5327	10	0.87932	D	0	-1.777	17.7765	0.88510	0.0:0.0:1.0:0.0	.	289;248;248;227;320;130;289	F8WCN3;E9PCP8;B4DH34;B4DGR9;P12532-2;B4DJW9;P12532	.;.;.;.;.;.;KCRU_HUMAN	R	289;248;289;152;322	ENSP00000300283:G289R;ENSP00000389267:G248R;ENSP00000413255:G289R;ENSP00000390428:G152R	ENSP00000300283:G289R	G	+	1	0	CKMT1B	41676010	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.642000	0.98461	2.485000	0.83878	0.485000	0.47835	GGC	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133147.2		+	ENST00000441322.1	Missense_Mutation	SNP	15 : 43888718 - 43888718 C PAAD-TCGA-US-A776-Tumor-SM-5437B	403	278
CLCN6	1185	broad.mit.edu	37	1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAATGGCGTAAAGGTGCC	0.552		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	6e-04	SNP								NA				0													128	110	116			NA	NA	1		NA											NA				11883815		2203	4300	6503	SO:0001583	missense			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021	1185	1185		Ion channels / Chloride channels : Voltage-sensitive	2024	protein-coding gene	gene with protein product		602726	chloride channel 6		NA	8543009	Standard	NM_001286	NM_001286	NA	Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.505G>A	1.37:g.11883815G>A	ENSP00000234488:p.Val169Ile	NA	A8K1T4|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	37	CCDS138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.13	3.555826	0.65425	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.97	5.97	0.96955	Chloride channel, core (2);	0.053524	0.85682	D	0.000000	D	0.89100	0.6619	N	0.25647	0.755	0.58432	D	0.99999	B;B;P;P;B	0.48503	0.105;0.442;0.911;0.823;0.128	B;B;B;B;B	0.36989	0.016;0.098;0.238;0.181;0.027	D	0.87899	0.2689	10	0.21014	T	0.42	-32.7531	17.5798	0.87963	0.0:0.0:1.0:0.0	.	147;169;169;169;169	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	169;169;147;169;169;169;169	ENSP00000308367:V169I;ENSP00000234488:V169I;ENSP00000365670:V147I;ENSP00000365679:V169I	ENSP00000308367:V169I	V	+	1	0	CLCN6	11806402	1.000000	0.71417	0.979000	0.43373	0.847000	0.48162	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTA	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006639.2		+	ENST00000346436.6	Missense_Mutation	SNP	1 : 11883815 - 11883815 A PAAD-TCGA-US-A776-Tumor-SM-5437B	294	4
CLTCL1	8218	broad.mit.edu	37	22	19196594	19196594	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:19196594G>A	ENST00000263200.10	-	21	3352	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1094	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATATGCCCGGTCCAGGTTT	0.498		NA	T	?	ALCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	0													59	61	60			NA	NA	22		NA											NA				19196594		2017	4214	6231	SO:0001583	missense				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371	8218	8218			2093	protein-coding gene	gene with protein product		601273	clathrin, heavy polypeptide-like 1	CLTCL	NA	8844170, 15133132	Standard	NM_007098	NM_007098	NA	Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3280C>T	22.37:g.19196594G>A	ENSP00000445677:p.Arg1094Trp	NA	B7Z7U5|Q14017|Q15808|Q15809	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128893	0.56721	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21543	2.0;2.0;2.0	4.0	2.97	0.34412	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.55386	0.1917	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.982	T	0.67154	-0.5742	10	0.87932	D	0	-7.0273	12.2682	0.54691	0.0:0.0:0.8092:0.1907	.	1094;1094	P53675-2;P53675	.;CLH2_HUMAN	W	1094	ENSP00000439662:R1094W;ENSP00000445677:R1094W;ENSP00000441158:R1094W	ENSP00000445677:R1094W	R	-	1	2	CLTCL1	17576594	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	5.690000	0.68241	0.812000	0.34326	0.655000	0.94253	CGG	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316397.5		-	ENST00000263200.10	Missense_Mutation	SNP	22 : 19196594 - 19196594 A PAAD-TCGA-US-A776-Tumor-SM-5437B	53	3
CNIH3	149111	broad.mit.edu	37	1	224872534	224872534	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:224872534C>T	ENST00000272133.3	+	3	1069	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	63					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCTGCTTCCTTCTGCGAAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	159	173			NA	NA	1		NA											NA				224872534		2203	4300	6503	SO:0001583	missense			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786	149111	149111			26802	protein-coding gene	gene with protein product			cornichon homolog 3 (Drosophila)		NA	8619474, 9110174	Standard	NM_152495	NM_152495	NA	Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.187C>T	1.37:g.224872534C>T	ENSP00000272133:p.Leu63Phe	NA		37	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558961	0.45590	.	.	ENSG00000143786	ENST00000272133	T	0.42513	0.97	4.49	3.58	0.41010	.	0.000000	0.64402	U	0.000001	T	0.27866	0.0686	L	0.29908	0.895	0.45567	D	0.998516	B	0.15719	0.014	B	0.19391	0.025	T	0.05022	-1.0911	10	0.09338	T	0.73	-13.0488	11.2414	0.48972	0.0:0.9082:0.0:0.0918	.	63	Q8TBE1	CNIH3_HUMAN	F	63	ENSP00000272133:L63F	ENSP00000272133:L63F	L	+	1	0	CNIH3	222939157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.258000	0.65479	0.892000	0.36259	0.551000	0.68910	CTT	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091752.2		+	ENST00000272133.3	Missense_Mutation	SNP	1 : 224872534 - 224872534 T PAAD-TCGA-US-A776-Tumor-SM-5437B	490	21
CNOT1	23019	broad.mit.edu	37	16	58562472	58562472	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:58562472C>T	ENST00000317147.5	-	44	6692	c.6360G>A	c.(6358-6360)gtG>gtA	p.V2120V	CNOT1_ENST00000245138.4_Silent_p.V971V|CNOT1_ENST00000569240.1_Silent_p.V2115V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2120					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGTGGGATCACATCACAGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	108			NA	NA	16		NA											NA				58562472		2198	4300	6498	SO:0001819	synonymous_variant			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107	23019	23019			7877	protein-coding gene	gene with protein product		604917		NOT1	NA	14702039	Standard	NM_016284	NM_016284	NA	Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6360G>A	16.37:g.58562472C>T		NA	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	37	CCDS10799.1																																																																																			CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257385.3		-	ENST00000317147.5	Silent	SNP	16 : 58562472 - 58562472 T PAAD-TCGA-US-A776-Tumor-SM-5437B	415	67
COL3A1	1281	broad.mit.edu	37	2	189859047	189859047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:189859047C>T	ENST00000304636.3	+	18	1452	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	428	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGACTGCGAGGTGGTGC	0.488		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	2		NA											NA				189859047		2203	4300	6503	SO:0001587	stop_gained			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542	1281	1281		Collagens	2201	protein-coding gene	gene with protein product		120180	Ehlers-Danlos syndrome type IV, autosomal dominant	EDS4A	NA	2780304, 2834369	Standard	NM_000090	NM_000090	NA	Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1282C>T	2.37:g.189859047C>T	ENSP00000304408:p.Arg428*	NA	D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213619	0.97380	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.56	3.43	0.39272	.	0.000000	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.1295	0.53934	0.5667:0.4332:0.0:0.0	.	.	.	.	X	428	.	ENSP00000304408:R428X	R	+	1	2	COL3A1	189567292	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	4.471000	0.60182	1.432000	0.47375	0.655000	0.94253	CGA	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255899.3		+	ENST00000304636.3	Nonsense_Mutation	SNP	2 : 189859047 - 189859047 T PAAD-TCGA-US-A776-Tumor-SM-5437B	351	17
COPS6	10980	broad.mit.edu	37	7	99687011	99687011	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:99687011C>T	ENST00000303904.3	+	2	212	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	COPS6_ENST00000418625.1_Missense_Mutation_p.R58C	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	59	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GATCCGCATGCGCTCCCAGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	117	117			NA	NA	7		NA											NA				99687011		2203	4300	6503	SO:0001583	missense			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090	10980	10980			21749	protein-coding gene	gene with protein product	COP9 subunit 6 (MOV34 homolog, 34 kD)	614729	COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)		NA	12477932	Standard	NM_006833	NM_006833	NA	Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.175C>T	7.37:g.99687011C>T	ENSP00000304102:p.Arg59Cys	NA	A4D2A3|O15387	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842569	0.91197	.	.	ENSG00000168090	ENST00000303904;ENST00000419210;ENST00000418625	T;T	0.55930	0.49;0.49	5.41	4.53	0.55603	.	0.062754	0.64402	N	0.000009	T	0.72334	0.3447	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.75246	-0.3385	10	0.72032	D	0.01	-24.1102	6.7007	0.23223	0.1762:0.7362:0.0:0.0876	.	59;59	B4DHR8;Q7L5N1	.;CSN6_HUMAN	C	59;29;58	ENSP00000304102:R59C;ENSP00000400617:R58C	ENSP00000304102:R59C	R	+	1	0	COPS6	99524947	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.114000	0.64648	1.521000	0.48983	0.655000	0.94253	CGC	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336412.3		+	ENST00000303904.3	Missense_Mutation	SNP	7 : 99687011 - 99687011 T PAAD-TCGA-US-A776-Tumor-SM-5437B	931	7
CPA1	1357	broad.mit.edu	37	7	130025029	130025029	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:130025029G>A	ENST00000011292.3	+	8	980	c.830G>A	c.(829-831)gGc>gAc	p.G277D	CPA1_ENST00000484324.1_Missense_Mutation_p.G189D	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	277					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTTACCACGGCAAGTTTGCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	103	108			NA	NA	7		NA											NA				130025029		2203	4300	6503	SO:0001583	missense				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	1357	1357	3.4.17.1		2296	protein-coding gene	gene with protein product	pancreatic carboxypeptidase A	114850		CPA	NA		Standard	NM_001868	NM_001868	NA	Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.830G>A	7.37:g.130025029G>A	ENSP00000011292:p.Gly277Asp	NA	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585455	0.86748	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.07114	3.22;3.22;3.22	5.63	5.63	0.86233	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73094	-0.4091	10	0.87932	D	0	.	18.6739	0.91521	0.0:0.0:1.0:0.0	.	277;189	P15085;C9JUF9	CBPA1_HUMAN;.	D	277;189;189	ENSP00000011292:G277D;ENSP00000419408:G189D;ENSP00000419497:G189D	ENSP00000011292:G277D	G	+	2	0	CPA1	129812265	1.000000	0.71417	0.730000	0.30809	0.642000	0.38348	9.476000	0.97823	2.660000	0.90430	0.561000	0.74099	GGC	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349736.2		+	ENST00000011292.3	Missense_Mutation	SNP	7 : 130025029 - 130025029 A PAAD-TCGA-US-A776-Tumor-SM-5437B	431	5
CSF3R	1441	broad.mit.edu	37	1	36933510	36933510	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:36933510C>T	ENST00000373103.1	-	14	2324	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T|CSF3R_ENST00000373106.1_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T|CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	593	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TACAGACTGGCGGGCTCCAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	64	60			NA	NA	1		NA											NA				36933510		2203	4300	6503	SO:0001583	missense			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535	1441	1441		CD molecules, Fibronectin type III domain containing	2439	protein-coding gene	gene with protein product		138971		CD114	NA	1371413	Standard	NM_156039	NM_000760	NA	Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373103.1:c.1777G>A	1.37:g.36933510C>T	ENSP00000362195:p.Ala593Thr	NA		37	CCDS414.1	.	.	.	.	.	.	.	.	.	.	C	6.595	0.478114	0.12521	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.33	1.81	0.25067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.744296	0.13828	N	0.359956	T	0.35740	0.0942	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B;P	0.40398	0.469;0.716;0.002;0.469;0.286;0.534	B;B;B;B;B;B	0.32149	0.085;0.141;0.002;0.085;0.034;0.059	T	0.11446	-1.0587	10	0.19590	T	0.45	-9.9329	7.0017	0.24813	0.4645:0.4454:0.0:0.0901	.	593;593;593;593;593;593	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.;.;.;CSF3R_HUMAN;.;.	T	593	ENSP00000362198:A593T;ENSP00000362196:A593T;ENSP00000362195:A593T;ENSP00000355406:A593T;ENSP00000332180:A593T;ENSP00000401588:A593T;ENSP00000345013:A593T;ENSP00000397568:A593T	ENSP00000332180:A593T	A	-	1	0	CSF3R	36706097	0.002000	0.14202	0.616000	0.29078	0.024000	0.10985	0.204000	0.17335	0.573000	0.29400	0.655000	0.94253	GCC	CSF3R-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022000.3		-	ENST00000373103.1	Missense_Mutation	SNP	1 : 36933510 - 36933510 T PAAD-TCGA-US-A776-Tumor-SM-5437B	434	5
CYB5R1	51706	broad.mit.edu	37	1	202931804	202931804	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:202931804C>G	ENST00000367249.4	-	9	843	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	257					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			TCGGCAGTCACAAAGCCCTTG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	78	81			NA	NA	1		NA											NA				202931804		2203	4300	6503	SO:0001583	missense			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	51706	51706	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	NAD(P)H:quinone oxidoreductase type 3, polypeptide A2	NQO3A2	NA	12975309, 10611283	Standard	NM_016243	NM_016243	NA	Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.769G>C	1.37:g.202931804C>G	ENSP00000356218:p.Val257Leu	NA	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963356	0.74016	.	.	ENSG00000159348	ENST00000367249	D	0.91843	-2.92	6.08	6.08	0.98989	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.081205	0.51477	D	0.000095	D	0.91324	0.7264	L	0.45422	1.42	0.46798	D	0.999203	B	0.20261	0.043	B	0.34242	0.178	D	0.87590	0.2490	10	0.87932	D	0	-4.6296	18.1659	0.89727	0.0:1.0:0.0:0.0	.	257	Q9UHQ9	NB5R1_HUMAN	L	257	ENSP00000356218:V257L	ENSP00000356218:V257L	V	-	1	0	CYB5R1	201198427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.328000	0.65887	2.894000	0.99253	0.591000	0.81541	GTG	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099155.1		-	ENST00000367249.4	Missense_Mutation	SNP	1 : 202931804 - 202931804 G PAAD-TCGA-US-A776-Tumor-SM-5437B	337	47
CYP4B1	1580	broad.mit.edu	37	1	47284367	47284367	+	Missense_Mutation	SNP	C	C	T	rs138678209	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:47284367C>T	ENST00000371919.4	+	11	1375	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000271153.4_Missense_Mutation_p.R473C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	473					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTGCTTGCTCCGCTTTGAGTT	0.557		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0016	SNP								NA				0								C	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	179	151	161		1417,1420	3.9	0.4	1	dbSNP_134	161	0,8600		0,0,4300	yes	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	180,180	0,4,6499	TT,TC,CC	NA	0.0,0.0908,0.0308	possibly-damaging,possibly-damaging	473/512,474/513	47284367	4,13002	2203	4300	6503	SO:0001583	missense			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973	1580	1580		Cytochrome P450s	2644	protein-coding gene	gene with protein product		124075	cytochrome P450, subfamily IVB, polypeptide 1		NA		Standard	NM_000779	NM_000779	NA	Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000371919.4:c.1375C>T	1.37:g.47284367C>T	ENSP00000360987:p.Arg459Cys	NA	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	37	CCDS542.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.04	1.818235	0.32145	9.08E-4	0.0	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.8	3.93	0.45458	.	0.266510	0.42053	D	0.000771	T	0.81422	0.4819	M	0.79258	2.445	0.23266	N	0.998011	D;P;P	0.76494	0.999;0.791;0.826	D;B;P	0.64877	0.93;0.432;0.568	T	0.73418	-0.3989	9	.	.	.	.	11.5076	0.50476	0.1254:0.8094:0.0:0.0652	.	459;474;473	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	474;473;459;311	ENSP00000360991:R474C;ENSP00000271153:R473C;ENSP00000360987:R459C;ENSP00000400413:R311C	.	R	+	1	0	CYP4B1	47056954	0.154000	0.22792	0.437000	0.26809	0.002000	0.02628	1.217000	0.32455	0.801000	0.34066	-0.152000	0.13540	CGC	CYP4B1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021913.2		+	ENST00000371919.4	Missense_Mutation	SNP	1 : 47284367 - 47284367 T PAAD-TCGA-US-A776-Tumor-SM-5437B	800	427
CYTH2	9266	broad.mit.edu	37	19	48981402	48981402	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:48981402G>A	ENST00000452733.2	+	9	1361	c.885G>A	c.(883-885)acG>acA	p.T295T	CYTH2_ENST00000427476.1_Splice_Site_p.T296T			Q99418	CYH2_HUMAN	cytohesin 2	296	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGTACACCACGGTGAGCGTGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	54			NA	NA	19		NA											NA				48981402		2203	4300	6503	SO:0001630	splice_region_variant			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443	9266	9266		Pleckstrin homology (PH) domain containing	9502	protein-coding gene	gene with protein product		602488	pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2), pleckstrin homology, Sec7 and coiled-coil domains 2	PSCD2L, PSCD2	NA	8706128, 8945478, 20525696	Standard	NM_004228	NM_004228	NA	Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.885+1G>A	19.37:g.48981402G>A		NA	A8K8P0|Q8IXY9|Q92958	37	CCDS12722.1																																																																																			CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317060.1	Silent	+	ENST00000452733.2	Splice_Site	SNP	19 : 48981402 - 48981402 A PAAD-TCGA-US-A776-Tumor-SM-5437B	349	22
DARS	1615	broad.mit.edu	37	2	136680484	136680484	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:136680484G>A	ENST00000264161.4	-	9	896	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DARS_ENST00000537273.1_Silent_p.A127A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	227					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTCCTTCACTGGCAGCTGAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	43	44			NA	NA	2		NA											NA				136680484		2203	4300	6503	SO:0001819	synonymous_variant			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	1615	1615	6.1.1.12	Aminoacyl tRNA synthetases / Class II	2678	protein-coding gene	gene with protein product	aspartate tRNA ligase 1, cytoplasmic	603084			NA	2674137	Standard	NM_001349	NM_001349	NA	Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.681C>T	2.37:g.136680484G>A		NA	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q9BW52	37	CCDS2180.1																																																																																			DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254660.5		-	ENST00000264161.4	Silent	SNP	2 : 136680484 - 136680484 A PAAD-TCGA-US-A776-Tumor-SM-5437B	255	25
DDX60	55601	broad.mit.edu	37	4	169197237	169197237	+	Missense_Mutation	SNP	G	G	A	rs140580597		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:169197237G>A	ENST00000393743.3	-	15	2365	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	692							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGAGTTGCCGATCATCTTCT	0.368		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0.05	EXOME	NA	NA	4e-04	SNP								NA				0								G	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	143	140	141		2074	1.2	0.1	4	dbSNP_134	141	0,8600		0,0,4300	no	missense	DDX60	NM_017631.5	101	0,4,6499	AA,AG,GG	NA	0.0,0.0908,0.0308	probably-damaging	692/1713	169197237	4,13002	2203	4300	6503	SO:0001583	missense			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628	55601	55601			25942	protein-coding gene	gene with protein product		613974			NA	12477932	Standard	NM_017631	NM_017631	NA	Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2074C>T	4.37:g.169197237G>A	ENSP00000377344:p.Arg692Trp	NA	Q6PK35|Q9NVE3	37	CCDS34097.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.57	1.387186	0.25031	9.08E-4	0.0	ENSG00000137628	ENST00000393743	T	0.18960	2.18	5.15	1.19	0.21007	.	1.713730	0.03101	N	0.161165	T	0.21509	0.0518	L	0.54323	1.7	0.09310	N	1	D	0.65815	0.995	B	0.43445	0.42	T	0.14783	-1.0460	10	0.37606	T	0.19	.	2.5362	0.04715	0.2638:0.125:0.4836:0.1276	.	692	Q8IY21	DDX60_HUMAN	W	692	ENSP00000377344:R692W	ENSP00000377344:R692W	R	-	1	2	DDX60	169433812	0.000000	0.05858	0.053000	0.19242	0.030000	0.12068	-0.134000	0.10436	0.266000	0.21894	0.557000	0.71058	CGG	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364622.1		-	ENST00000393743.3	Missense_Mutation	SNP	4 : 169197237 - 169197237 A PAAD-TCGA-US-A776-Tumor-SM-5437B	371	6
DEPDC5	9681	broad.mit.edu	37	22	32229984	32229984	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:32229984A>G	ENST00000382112.3	+	24	2240				DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000536766.1_Missense_Mutation_p.T624A	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	NA					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGGCAGCTGACTGGGGAAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	130	131			NA	NA	22		NA											NA				32229984		1927	4124	6051	SO:0001627	intron_variant			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150	9681	9681			18423	protein-coding gene	gene with protein product		614191			NA	23542697, 23542701	Standard	NM_014662	NM_001242896	NA	Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2170+18A>G	22.37:g.32229984A>G		NA	A6H8V6|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082595	0.36758	.	.	ENSG00000100150	ENST00000536766	T	0.29917	1.55	5.56	-2.4	0.06583	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	7	.	.	.	.	7.1367	0.25533	0.2435:0.0:0.593:0.1635	.	624	F5GYZ8	.	A	624	ENSP00000441358:T624A	.	T	+	1	0	DEPDC5	30559984	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.267000	0.08619	-0.416000	0.07473	0.450000	0.29827	ACT	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129087.1		+	ENST00000382112.3	Intron	SNP	22 : 32229984 - 32229984 G PAAD-TCGA-US-A776-Tumor-SM-5437B	871	6
DMBT1	1755	broad.mit.edu	37	10	124402694	124402694	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:124402694G>A	ENST00000338354.3	+	53	7128	c.7022G>A	c.(7021-7023)cGc>cAc	p.R2341H	DMBT1_ENST00000368909.3_Missense_Mutation_p.R2341H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2341	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCATTGCCCGCTTCCGGTTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(182;93 2026 18125 22222 38972)							NA				0													118	128	125			NA	NA	10		NA											NA				124402694		2080	4208	6288	SO:0001583	missense				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908	1755	1755			2926	protein-coding gene	gene with protein product		601969			NA	9288095, 17548659	Standard	NM_004406	NM_004406	NA	Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7022G>A	10.37:g.124402694G>A	ENSP00000342210:p.Arg2341His	NA	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.418744	0.83559	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.28	4.37	0.52481	Zona pellucida sperm-binding protein (3);	0.000000	0.39475	U	0.001355	D	0.92678	0.7673	M	0.85945	2.785	0.42305	D	0.992198	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.81914	0.992;0.731;0.984;0.992;0.984;0.992;0.995	D	0.93947	0.7228	10	0.87932	D	0	.	15.2327	0.73404	0.0:0.0:0.8583:0.1417	.	1061;2321;1590;2470;1713;2331;2341	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	2341;2470;2341;2341;2341;2340;1713;2331;1713;1713;2341;2331;1713;487;1061	ENSP00000342210:R2341H;ENSP00000343175:R2331H;ENSP00000327747:R1713H;ENSP00000357905:R2341H;ENSP00000357951:R2331H;ENSP00000357952:R1713H;ENSP00000352593:R1061H	ENSP00000331522:R1713H	R	+	2	0	DMBT1	124392684	1.000000	0.71417	0.924000	0.36721	0.011000	0.07611	5.988000	0.70579	1.216000	0.43427	-0.181000	0.13052	CGC	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050792.2		+	ENST00000338354.3	Missense_Mutation	SNP	10 : 124402694 - 124402694 A PAAD-TCGA-US-A776-Tumor-SM-5437B	421	103
EFCAB13	124989	broad.mit.edu	37	17	45487057	45487057	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45487057G>A	ENST00000331493.2	+	21	2689	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	EFCAB13_ENST00000517484.1_Splice_Site_p.E664K|CTD-2026D20.2_ENST00000523101.1_RNA	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13	NA											NA						AAAGGTAAACGGTGAGTAAGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	136	135			NA	NA	17		NA											NA				45487057		2203	4300	6503	SO:0001630	splice_region_variant			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852	124989	124989		EF-hand domain containing	26864	protein-coding gene	gene with protein product			chromosome 17 open reading frame 57	C17orf57	NA		Standard	NM_152347	NM_152347	NA	Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2278+1G>A	17.37:g.45487057G>A		NA		37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	5.318	0.244067	0.10077	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.27256	1.68;1.68	2.46	2.46	0.29980	EF-hand-like domain (1);	0.865207	0.09718	N	0.764851	T	0.26340	0.0643	L	0.58101	1.795	0.32031	N	0.599567	P;D	0.60575	0.787;0.988	B;B	0.42422	0.182;0.387	T	0.41805	-0.9488	10	0.56958	D	0.05	0.4651	8.549	0.33440	0.0:0.0:1.0:0.0	.	760;664	Q8IY85;G3V128	CQ057_HUMAN;.	K	760;664	ENSP00000332111:E760K;ENSP00000430048:E664K	ENSP00000332111:E760K	E	+	1	0	C17orf57	42842056	0.990000	0.36364	0.646000	0.29493	0.069000	0.16628	1.168000	0.31859	1.675000	0.50919	0.461000	0.40582	GAG	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380147.4	Missense_Mutation	+	ENST00000331493.2	Splice_Site	SNP	17 : 45487057 - 45487057 A PAAD-TCGA-US-A776-Tumor-SM-5437B	708	44
EPHB2	2048	broad.mit.edu	37	1	23110922	23110922	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:23110922C>T	ENST00000400191.3	+	3	182	c.164C>T	c.(163-165)aCg>aTg	p.T55M	EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M|EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	55					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACATGAACACGATCCGCACG	0.572		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.889	EXOME	NA	NA	4e-04	SNP								NA				0													105	88	93			NA	NA	1		NA											NA				23110922		2203	4300	6503	SO:0001583	missense			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2048	2048	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3393	protein-coding gene	gene with protein product		600997	EphB2	DRT, ERK, EPHT3	NA	1648701	Standard	NM_017449	NM_017449	NA	Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.164C>T	1.37:g.23110922C>T	ENSP00000383053:p.Thr55Met	NA	O43477|Q5T0U6|Q5T0U7|Q5T0U8	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.9	4.346203	0.82022	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03689	3.84;3.84;3.84;3.84;3.84	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.66939	2.045	0.80722	D	1	P;D;D;D	0.89917	0.913;1.0;1.0;1.0	B;D;D;D	0.76575	0.369;0.988;0.988;0.969	T	0.00034	-1.2266	10	0.72032	D	0.01	.	17.4346	0.87548	0.0:1.0:0.0:0.0	.	55;55;73;55	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	55;55;55;55;55;49	ENSP00000444174:T55M;ENSP00000363761:T55M;ENSP00000383053:T55M;ENSP00000363763:T55M;ENSP00000363758:T49M	ENSP00000363755:T55M	T	+	2	0	EPHB2	22983509	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.590000	0.82653	2.704000	0.92352	0.484000	0.47621	ACG	EPHB2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000008060.2		+	ENST00000400191.3	Missense_Mutation	SNP	1 : 23110922 - 23110922 T PAAD-TCGA-US-A776-Tumor-SM-5437B	200	13
ERC1	23085	broad.mit.edu	37	12	1221474	1221474	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:1221474G>A	ENST00000536573.2	+	4	332		c.e4+1		ERC1_ENST00000360905.4_Intron|ERC1_ENST00000355446.5_Intron|ERC1_ENST00000589028.1_Intron|ERC1_ENST00000543086.3_Intron|ERC1_ENST00000546231.2_Intron|ERC1_ENST00000397203.2_Intron			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	NA					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGTCTTTGCCGTAAGATTTAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	109	113			NA	NA	12		NA											NA				1221474		2203	4300	6503	SO:0001630	splice_region_variant			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805	23085	23085			17072	protein-coding gene	gene with protein product		607127	RAB6 interacting protein 2	RAB6IP2	NA	10697956, 11929610	Standard	NM_015064	NM_178040	NA	Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000536573.2:c.332+1G>A	12.37:g.1221474G>A		NA	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.679965	0.88542	.	.	ENSG00000082805	ENST00000536573	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1248	0.93378	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERC1	1091735	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.226000	0.95229	2.535000	0.85469	0.585000	0.79938	.	ERC1-003	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000397934.4	Intron	+	ENST00000536573.2	Splice_Site	SNP	12 : 1221474 - 1221474 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1473	10
EVX2	344191	broad.mit.edu	37	2	176948170	176948170	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:176948170G>A	ENST00000308618.4	-	1	471	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCTCATGTCGGCCTCAGCGGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	2		NA											NA				176948170		2202	4300	6502	SO:0001583	missense				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279	344191	344191		Homeoboxes / ANTP class : HOXL subclass	3507	protein-coding gene	gene with protein product		142991	eve, even-skipped homeobox homolog 2 (Drosophila)		NA	1675198	Standard		NM_001080458	NA	Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.335C>T	2.37:g.176948170G>A	ENSP00000312385:p.Ala112Val	NA		37	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582621	0.86748	.	.	ENSG00000174279	ENST00000308618	D	0.91740	-2.9	5.43	5.43	0.79202	.	0.185889	0.47455	D	0.000233	D	0.92231	0.7536	L	0.43923	1.385	0.49798	D	0.999827	P	0.52463	0.953	P	0.50109	0.631	D	0.92876	0.6319	10	0.66056	D	0.02	-11.2309	19.2581	0.93955	0.0:0.0:1.0:0.0	.	112	Q03828	EVX2_HUMAN	V	112	ENSP00000312385:A112V	ENSP00000312385:A112V	A	-	2	0	EVX2	176656416	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.547000	0.85894	0.655000	0.94253	GCC	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359252.1		-	ENST00000308618.4	Missense_Mutation	SNP	2 : 176948170 - 176948170 A PAAD-TCGA-US-A776-Tumor-SM-5437B	159	4
FBN2	2201	broad.mit.edu	37	5	127673720	127673720	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:127673720G>A	ENST00000508053.1	-	33	4541	c.3567C>T	c.(3565-3567)caC>caT	p.H1189H	FBN2_ENST00000262464.4_Silent_p.H1189H|FBN2_ENST00000508989.1_Silent_p.H1156H|FBN2_ENST00000507835.1_Silent_p.H39H			P35556	FBN2_HUMAN	fibrillin 2	1189	EGF-like 17; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGACAGCTCGTGTCCCAGTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	71	75			NA	NA	5		NA											NA				127673720		2203	4300	6503	SO:0001819	synonymous_variant			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3567C>T	5.37:g.127673720G>A		NA	B4DU01|Q59ES6	37	CCDS34222.1																																																																																			FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Silent	SNP	5 : 127673720 - 127673720 A PAAD-TCGA-US-A776-Tumor-SM-5437B	211	7
FBXO10	26267	broad.mit.edu	37	9	37518160	37518160	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:37518160C>T	ENST00000432825.2	-	9	2524	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	826						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCCCGCTGCCCCGGTTGCCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	83	82			NA	NA	9		NA											NA				37518160		2028	4181	6209	SO:0001583	missense			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912	26267	26267		F-boxes /  other	13589	protein-coding gene	gene with protein product		609092	F-box only protein 10		NA	10531035, 10531037, 19300908	Standard		NM_012166	NA	Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2476G>A	9.37:g.37518160C>T	ENSP00000403802:p.Gly826Ser	NA	Q08AL3|Q5JRT8|Q9UKC3	37	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710231	0.89018	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	D;D	0.81821	-1.54;-1.54	5.37	5.37	0.77165	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.117372	0.56097	D	0.000022	D	0.82903	0.5138	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72075	0.976;0.965;0.965	T	0.79344	-0.1842	10	0.19590	T	0.45	-13.3359	17.9097	0.88930	0.0:1.0:0.0:0.0	.	705;351;826	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	S	826;351	ENSP00000403802:G826S;ENSP00000441307:G351S	ENSP00000403802:G826S	G	-	1	0	FBXO10	37508160	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	3.442000	0.52900	2.505000	0.84491	0.655000	0.94253	GGC	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052472.3		-	ENST00000432825.2	Missense_Mutation	SNP	9 : 37518160 - 37518160 T PAAD-TCGA-US-A776-Tumor-SM-5437B	280	12
FDXACB1	91893	broad.mit.edu	37	11	111746220	111746220	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111746220C>A	ENST00000260257.4	-	5	1348	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	434					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GACTAAACTGCTCAGCTTAGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	112	113			NA	NA	11		NA											NA				111746220		1891	4133	6024	SO:0001583	missense				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561	91893	91893			25110	protein-coding gene	gene with protein product	hypothetical protein BC006136				NA		Standard	NM_138378	NR_038364	NA	Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1301G>T	11.37:g.111746220C>A	ENSP00000260257:p.Ser434Ile	NA	A0PJW7	37	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766748	0.15983	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.73152	0.29;-0.72;0.75	5.86	3.0	0.34707	.	0.412136	0.29486	N	0.012014	T	0.55289	0.1911	L	0.48642	1.525	0.09310	N	1	P	0.39216	0.664	B	0.31191	0.125	T	0.49466	-0.8937	10	0.42905	T	0.14	.	7.2435	0.26109	0.0:0.6412:0.1278:0.231	.	434	Q9BRP7	FDXA1_HUMAN	I	434;285;345	ENSP00000260257:S434I;ENSP00000441304:S285I;ENSP00000435572:S345I	ENSP00000260257:S434I	S	-	2	0	FDXACB1	111251430	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	0.173000	0.16724	0.821000	0.34540	0.655000	0.94253	AGC	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391497.1		-	ENST00000260257.4	Missense_Mutation	SNP	11 : 111746220 - 111746220 A PAAD-TCGA-US-A776-Tumor-SM-5437B	460	109
FGA	2243	broad.mit.edu	37	4	155507526	155507526	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:155507526G>T	ENST00000302053.3	-	5	1133	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	FGA_ENST00000403106.3_Missense_Mutation_p.P352H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	352					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGGTCTAGGGCTCCCAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(143;340 1922 20892 22370 48145)							NA				0			GRCh37	CD001896	FGA	D							79	84	82			NA	NA	4		NA											NA				155507526		2203	4300	6503	SO:0001583	missense				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560	2243	2243		Fibrinogen C domain containing, Endogenous ligands	3661	protein-coding gene	gene with protein product		134820	fibrinogen, A alpha polypeptide		NA		Standard	NM_000508	NM_000508	NA	Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1055C>A	4.37:g.155507526G>T	ENSP00000306361:p.Pro352His	NA	D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806702	0.50421	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.83335	-1.71;-1.71	4.88	1.93	0.25924	.	6.051070	0.00610	N	0.000411	T	0.79347	0.4430	L	0.55990	1.75	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.09377	0.003;0.004	T	0.61426	-0.7065	10	0.66056	D	0.02	.	3.3862	0.07272	0.09:0.1447:0.4692:0.2961	.	352;352	P02671-2;P02671	.;FIBA_HUMAN	H	352	ENSP00000306361:P352H;ENSP00000385981:P352H	ENSP00000306361:P352H	P	-	2	0	FGA	155726976	0.128000	0.22383	0.001000	0.08648	0.271000	0.26615	3.142000	0.50601	0.997000	0.38969	0.557000	0.71058	CCT	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317593.1		-	ENST00000302053.3	Missense_Mutation	SNP	4 : 155507526 - 155507526 T PAAD-TCGA-US-A776-Tumor-SM-5437B	961	7
FHIT	2272	broad.mit.edu	37	3	59999777	59999777	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:59999777C>A	ENST00000468189.1	-	6	575	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L|FHIT_ENST00000476844.1_Missense_Mutation_p.V69L			P49789	FHIT_HUMAN	fragile histidine triad	69	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		TGTTTTTCCACCACTGTCCCG	0.512		NA	T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0													98	96	96			NA	NA	3		NA											NA				59999777		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283	2272	2272			3701	protein-coding gene	gene with protein product		601153	fragile histidine triad gene		NA	8598045, 9671749	Standard	NM_002012	NM_002012	NA	Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.205G>T	3.37:g.59999777C>A	ENSP00000417480:p.Val69Leu	NA	Q6IU12	37	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	C	2.453	-0.325961	0.05350	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	5.96	4.2	0.49525	Histidine triad motif (1);Histidine triad-like motif (1);	0.063315	0.64402	D	0.000007	T	0.80308	0.4599	N	0.11818	0.18	0.43032	D	0.994607	B	0.09022	0.002	B	0.12837	0.008	T	0.71094	-0.4692	9	.	.	.	-20.1739	11.4337	0.50056	0.0:0.8615:0.0:0.1385	.	69	P49789	FHIT_HUMAN	L	69	ENSP00000418582:V69L;ENSP00000417557:V69L;ENSP00000417480:V69L;ENSP00000342087:V69L;ENSP00000418596:V69L	.	V	-	1	0	FHIT	59974817	1.000000	0.71417	0.992000	0.48379	0.007000	0.05969	2.964000	0.49192	0.875000	0.35847	-0.812000	0.03155	GTG	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351648.1		-	ENST00000468189.1	Missense_Mutation	SNP	3 : 59999777 - 59999777 A PAAD-TCGA-US-A776-Tumor-SM-5437B	368	61
FHL2	2274	broad.mit.edu	37	2	106002866	106002866	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:106002866G>A	ENST00000409177.1	-	2	577	c.456C>T	c.(454-456)ttC>ttT	p.F152F	FHL2_ENST00000607522.1_Silent_p.F36F|FHL2_ENST00000408995.1_Silent_p.F36F|FHL2_ENST00000358129.4_Silent_p.F36F|FHL2_ENST00000322142.8_Silent_p.F36F|FHL2_ENST00000393352.3_Silent_p.F36F|FHL2_ENST00000393353.3_Silent_p.F36F|FHL2_ENST00000336660.5_Silent_p.F36F|FHL2_ENST00000344213.4_Silent_p.F146F|FHL2_ENST00000409807.1_Silent_p.F36F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	36	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGGTGTTGGCGAACAGGGTCT	0.612		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	4e-04	SNP								NA				0													78	72	74			NA	NA	2		NA											NA				106002866		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641	2274	2274			3703	protein-coding gene	gene with protein product		602633			NA	8753811	Standard		NM_201557	NA	Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409177.1:c.456C>T	2.37:g.106002866G>A		NA	Q13229|Q13644|Q9P294	37																																																																																				FHL2-006	PUTATIVE	alternative_5_UTR|downstream_ATG|basic	protein_coding	NA	protein_coding	OTTHUMT00000329659.2		-	ENST00000409177.1	Silent	SNP	2 : 106002866 - 106002866 A PAAD-TCGA-US-A776-Tumor-SM-5437B	311	4
FLG2	388698	broad.mit.edu	37	1	152326576	152326576	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152326576C>A	ENST00000388718.5	-	3	3758	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1229	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACTGTGGATCCTGACTCTAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	170	172			NA	NA	1		NA											NA				152326576		2203	4300	6503	SO:0001583	missense			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3686G>T	1.37:g.152326576C>A	ENSP00000373370:p.Gly1229Val	NA	Q9H4U1	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928345	0.18131	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	3.52	-0.287	0.12858	.	.	.	.	.	T	0.03651	0.0104	M	0.72118	2.19	0.09310	N	1	P	0.38827	0.649	B	0.30855	0.121	T	0.34079	-0.9843	9	0.39692	T	0.17	1.501	2.0759	0.03624	0.182:0.4018:0.2961:0.1201	.	1229	Q5D862	FILA2_HUMAN	V	1229	ENSP00000373370:G1229V	ENSP00000373370:G1229V	G	-	2	0	FLG2	150593200	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-1.119000	0.03276	-0.341000	0.08376	0.306000	0.20318	GGA	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Missense_Mutation	SNP	1 : 152326576 - 152326576 A PAAD-TCGA-US-A776-Tumor-SM-5437B	805	21
GALNT10	55568	broad.mit.edu	37	5	153789282	153789282	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:153789282T>C	ENST00000297107.6	+	9	1483	c.1346T>C	c.(1345-1347)tTc>tCc	p.F449S	SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S|GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	449						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTGCCCAAATTCTACCCACCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	83	80			NA	NA	5		NA											NA				153789282		2203	4300	6503	SO:0001583	missense			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	55568	55568	2.4.1.41	Glycosyltransferase family 2 domain containing	19873	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 10	608043	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)		NA	12417297	Standard	NM_198321	NM_198321	NA	Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1346T>C	5.37:g.153789282T>C	ENSP00000297107:p.Phe449Ser	NA	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127633	0.37533	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.61627	0.48;0.57;0.09	5.02	3.82	0.43975	.	0.218754	0.48767	D	0.000180	T	0.25938	0.0632	N	0.02916	-0.46	0.43771	D	0.996297	B;P;P	0.44816	0.27;0.816;0.844	B;B;B	0.35470	0.199;0.203;0.175	T	0.05338	-1.0891	10	0.22109	T	0.4	.	9.2405	0.37493	0.289:0.0:0.0:0.711	.	387;120;449	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	S	449;387;122	ENSP00000297107:F449S;ENSP00000366889:F387S;ENSP00000366885:F122S	ENSP00000297107:F449S	F	+	2	0	GALNT10	153769475	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.897000	0.56273	0.885000	0.36088	0.459000	0.35465	TTC	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252453.1		+	ENST00000297107.6	Missense_Mutation	SNP	5 : 153789282 - 153789282 C PAAD-TCGA-US-A776-Tumor-SM-5437B	812	151
GDPD3	79153	broad.mit.edu	37	16	30124708	30124708	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:30124708G>A	ENST00000406256.3	-	1	469	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	31					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AGCCCTGGGCGTGTGCAGCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	130	124			NA	NA	16		NA											NA				30124708		2127	4244	6371	SO:0001583	missense			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886	79153	79153			28638	protein-coding gene	gene with protein product					NA		Standard	NM_024307	NM_024307	NA	Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.92C>T	16.37:g.30124708G>A	ENSP00000384363:p.Thr31Met	NA	Q9H652	37	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914207	0.33815	.	.	ENSG00000102886	ENST00000406256	.	.	.	5.98	3.99	0.46301	.	0.464523	0.15839	U	0.242126	T	0.29524	0.0736	L	0.51422	1.61	0.09310	N	0.999993	P	0.48350	0.909	B	0.39027	0.288	T	0.17899	-1.0354	9	0.46703	T	0.11	-1.1997	8.1862	0.31341	0.081:0.0:0.7643:0.1547	.	31	Q7L5L3	GDPD3_HUMAN	M	31	.	ENSP00000384363:T31M	T	-	2	0	GDPD3	30032209	0.013000	0.17824	0.018000	0.16275	0.045000	0.14185	1.987000	0.40687	1.517000	0.48917	-0.182000	0.12963	ACG	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255144.1		-	ENST00000406256.3	Missense_Mutation	SNP	16 : 30124708 - 30124708 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1180	7
GGT1	2678	broad.mit.edu	37	22	25016461	25016461	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:25016461C>T	ENST00000400382.1	+	8	1304	c.549C>T	c.(547-549)acC>acT	p.T183T	GGT1_ENST00000400383.1_Silent_p.T183T|GGT1_ENST00000248923.4_Silent_p.T183T|GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000406383.2_Silent_p.T183T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	183					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACAAGCGGACCGTCATCGAGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	25	24			NA	NA	22		NA											NA				25016461		1899	4082	5981	SO:0001819	synonymous_variant			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2678	2678	2.3.2.2	CD molecules, Gamma-glutamyltransferases	4250	protein-coding gene	gene with protein product		612346		GGT	NA	8104871, 18357469	Standard	NM_013430	NM_001288833	NA	Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.549C>T	22.37:g.25016461C>T		NA	Q08247|Q14404|Q8TBS1|Q9UMK1	37	CCDS42992.1																																																																																			GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250797.1		+	ENST00000400382.1	Silent	SNP	22 : 25016461 - 25016461 T PAAD-TCGA-US-A776-Tumor-SM-5437B	404	5
GLRA1	2741	broad.mit.edu	37	5	151208496	151208496	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:151208496G>A	ENST00000274576.4	-	8	1337	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W|GLRA1_ENST00000455880.2_Missense_Mutation_p.R349W	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	349					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGTCTCCGCTTCCTCCTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	171	172			NA	NA	5		NA											NA				151208496		2203	4300	6503	SO:0001583	missense				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888	2741	2741		Ligand-gated ion channels / Glycine receptors	4326	protein-coding gene	gene with protein product	startle disease/hyperekplexia, stiff person syndrome	138491	glycine receptor, alpha 1 (startle disease/hyperekplexia)	STHE	NA	1355335, 8298642	Standard		NM_000171	NA	Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000274576.4:c.1045C>T	5.37:g.151208496G>A	ENSP00000274576:p.Arg349Trp	NA	B2R6T3|Q14C77|Q6DJV9	37	CCDS4320.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852768	0.71719	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85861	-2.04;-1.93;-2.04	5.07	1.62	0.23740	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	N	0.14661	0.345	0.45452	D	0.998427	D;D;D	0.65815	0.995;0.994;0.994	P;P;P	0.58820	0.846;0.846;0.761	T	0.82610	-0.0372	10	0.56958	D	0.05	.	13.0356	0.58870	0.0:0.0:0.3181:0.6818	.	349;266;349	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	W	349;349;266	ENSP00000274576:R349W;ENSP00000411593:R349W;ENSP00000445913:R266W	ENSP00000274576:R349W	R	-	1	2	GLRA1	151188689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.019000	0.41001	0.595000	0.29777	0.650000	0.86243	CGG	GLRA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252429.2		-	ENST00000274576.4	Missense_Mutation	SNP	5 : 151208496 - 151208496 A PAAD-TCGA-US-A776-Tumor-SM-5437B	941	27
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000313949.7_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	242	Substitution - Missense(242)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)											80	78	79			NA	NA	20		NA											NA				57484420		2203	4300	6503	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.2530C>T	20.37:g.57484420C>T	ENSP00000360141:p.Arg844Cys	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080417.3		+	ENST00000371100.4	Missense_Mutation	SNP	20 : 57484420 - 57484420 T PAAD-TCGA-US-A776-Tumor-SM-5437B	383	226
GNB3	2784	broad.mit.edu	37	12	6952186	6952186	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6952186C>T	ENST00000229264.3	+	5	554	c.149C>T	c.(148-150)aCg>aTg	p.T50M	GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	50					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCGGCGGACGTTAAGGGGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	97	103			NA	NA	12		NA											NA				6952186		2203	4300	6503	SO:0001583	missense				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664	2784	2784		WD repeat domain containing	4400	protein-coding gene	gene with protein product		139130			NA	11770079, 16600389	Standard	NM_002075	XM_005253680	NA	Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.149C>T	12.37:g.6952186C>T	ENSP00000229264:p.Thr50Met	NA	Q9BQC0	37	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110849	0.94292	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.964;0.981	T	0.80944	-0.1156	10	0.66056	D	0.02	-16.8247	18.8518	0.92235	0.0:1.0:0.0:0.0	.	50;50	E9PCP0;P16520	.;GBB3_HUMAN	M	50	ENSP00000229264:T50M;ENSP00000442002:T50M;ENSP00000414734:T50M;ENSP00000445967:T50M	ENSP00000229264:T50M	T	+	2	0	GNB3	6822447	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	7.818000	0.86416	2.459000	0.83118	0.491000	0.48974	ACG	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400006.1		+	ENST00000229264.3	Missense_Mutation	SNP	12 : 6952186 - 6952186 T PAAD-TCGA-US-A776-Tumor-SM-5437B	1190	53
GRM1	2911	broad.mit.edu	37	6	146480697	146480697	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:146480697G>A	ENST00000392299.2	+	3	1384	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H|GRM1_ENST00000282753.1_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000355289.4_Missense_Mutation_p.R305H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	305					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCATGCGGCGCCTTGGCGTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	6		NA											NA				146480697		2203	4300	6503	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.914G>A	6.37:g.146480697G>A	ENSP00000376119:p.Arg305His	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490785	0.96339	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.995;0.998	P;D;P;P	0.69824	0.851;0.966;0.908;0.851	D	0.91828	0.5473	10	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	305;305;300;305	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	305	ENSP00000354896:R305H;ENSP00000376119:R305H;ENSP00000424095:R305H;ENSP00000282753:R305H;ENSP00000347437:R305H;ENSP00000425599:R305H	ENSP00000282753:R305H	R	+	2	0	GRM1	146522390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.415000	0.97375	2.495000	0.84180	0.655000	0.94253	CGC	GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Missense_Mutation	SNP	6 : 146480697 - 146480697 A PAAD-TCGA-US-A776-Tumor-SM-5437B	309	19
GYS2	2998	broad.mit.edu	37	12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(149;9 1820 3690 10544 50424)							NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	103	103		1673	4.2	1	12		103	0,8600		0,0,4300	no	missense	GYS2	NM_021957.3	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	558/704	21693480	1,13005	2203	4300	6503	SO:0001583	missense				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2998	2998	2.4.1.11	Glycosyltransferase group 1 domain containing	4707	protein-coding gene	gene with protein product		138571			NA		Standard	NM_021957	NM_021957	NA	Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1673G>A	12.37:g.21693480C>T	ENSP00000261195:p.Arg558His	NA	A0AVD8	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938371	0.73557	2.27E-4	0.0	ENSG00000111713	ENST00000261195	T	0.65549	-0.16	5.1	4.21	0.49690	.	0.593520	0.18354	N	0.143787	T	0.68339	0.2990	L	0.35723	1.085	0.47374	D	0.999406	D	0.54601	0.967	P	0.61275	0.886	T	0.70916	-0.4742	10	0.72032	D	0.01	-1.7161	13.8336	0.63395	0.0:0.926:0.0:0.074	.	558	P54840	GYS2_HUMAN	H	558	ENSP00000261195:R558H	ENSP00000261195:R558H	R	-	2	0	GYS2	21584747	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.026000	0.49689	1.369000	0.46134	0.650000	0.86243	CGT	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402396.1		-	ENST00000261195.2	Missense_Mutation	SNP	12 : 21693480 - 21693480 T PAAD-TCGA-US-A776-Tumor-SM-5437B	610	96
H6PD	9563	broad.mit.edu	37	1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	rs113495544	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTCCATGGCCGGAAGAATTTC	0.597		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	4e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.0046	SNP								NA				0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90	103	98		1406	3.7	0.5	1	dbSNP_132	98	0,8600		0,0,4300	yes	missense	H6PD	NM_004285.3	43	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	469/792	9323958	1,13005	2203	4300	6503	SO:0001583	missense			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	9563	9563	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	glucose dehyrogenase	GDH	NA	10349511	Standard	NM_004285	NM_001282587	NA	Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1406G>A	1.37:g.9323958G>A	ENSP00000366620:p.Arg469Gln	NA	Q4TT33|Q66I35|Q68DT3	37	CCDS101.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.147	1.015316	0.19355	2.27E-4	0.0	ENSG00000049239	ENST00000377403	D	0.98207	-4.79	5.53	3.65	0.41850	.	0.309965	0.34002	N	0.004350	D	0.94305	0.8170	L	0.38175	1.15	0.33590	D	0.60101	B	0.30741	0.293	B	0.15052	0.012	D	0.94300	0.7536	10	0.28530	T	0.3	-23.6496	8.8895	0.35425	0.2291:0.0:0.7709:0.0	.	469	O95479	G6PE_HUMAN	Q	469	ENSP00000366620:R469Q	ENSP00000366620:R469Q	R	+	2	0	H6PD	9246545	0.961000	0.32948	0.509000	0.27700	0.417000	0.31264	1.618000	0.36954	1.339000	0.45563	0.561000	0.74099	CGG	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004928.2		+	ENST00000377403.2	Missense_Mutation	SNP	1 : 9323958 - 9323958 A PAAD-TCGA-US-A776-Tumor-SM-5437B	749	10
HCN4	10021	broad.mit.edu	37	15	73635767	73635767	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:73635767G>A	ENST00000261917.3	-	2	2161	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	390					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.R390C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGAGGCGTAACAGGCGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											76	60	65			NA	NA	15		NA											NA				73635767		2198	4297	6495	SO:0001583	missense			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622	10021	10021		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	16882	protein-coding gene	gene with protein product		605206			NA	10228147, 10430953, 16382102	Standard	NM_005477	NM_005477	NA	Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1168C>T	15.37:g.73635767G>A	ENSP00000261917:p.Arg390Cys	NA	Q9UMQ7	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975976	0.53720	.	.	ENSG00000138622	ENST00000261917	D	0.98849	-5.18	5.34	4.41	0.53225	Ion transport (1);	.	.	.	.	D	0.99324	0.9763	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	9	0.87932	D	0	.	13.62	0.62132	0.0:0.0:0.7195:0.2805	.	390	Q9Y3Q4	HCN4_HUMAN	C	390	ENSP00000261917:R390C	ENSP00000261917:R390C	R	-	1	0	HCN4	71422820	1.000000	0.71417	0.973000	0.42090	0.796000	0.44982	4.527000	0.60573	1.355000	0.45865	0.655000	0.94253	CGC	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268900.2		-	ENST00000261917.3	Missense_Mutation	SNP	15 : 73635767 - 73635767 A PAAD-TCGA-US-A776-Tumor-SM-5437B	258	44
HDAC4	9759	broad.mit.edu	37	2	240056274	240056274	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:240056274C>T	ENST00000345617.3	-	10	1835	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	HDAC4_ENST00000541256.1_Silent_p.S317S|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	348					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCAAGGATGGCGATGTGTAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	120	120			NA	NA	2		NA											NA				240056274		2203	4300	6503	SO:0001819	synonymous_variant			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024	9759	9759			14063	protein-coding gene	gene with protein product		605314	brachydactyly-mental retardation syndrome	BDMR	NA	10206986, 10220385, 20691407	Standard	NM_006037	NM_006037	NA	Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1044G>A	2.37:g.240056274C>T		NA	Q9UND6	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698923	0.03279	.	.	ENSG00000068024	ENST00000445704	.	.	.	4.32	-3.3	0.05003	.	.	.	.	.	T	0.50051	0.1593	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	.	7.0263	0.24942	0.1417:0.3633:0.0:0.495	.	.	.	.	H	92	.	.	R	-	2	0	HDAC4	239721211	0.000000	0.05858	0.134000	0.22075	0.094000	0.18550	-6.383000	0.00068	-0.870000	0.04047	0.561000	0.74099	CGC	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257174.2		-	ENST00000345617.3	Silent	SNP	2 : 240056274 - 240056274 T PAAD-TCGA-US-A776-Tumor-SM-5437B	189	4
HMHA1	23526	broad.mit.edu	37	19	1068622	1068622	+	Silent	SNP	G	G	A	rs148289980	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:1068622G>A	ENST00000586866.1	+	2	387	c.312G>A	c.(310-312)ccG>ccA	p.P104P	HMHA1_ENST00000539243.2_Silent_p.P116P|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000313093.2_Silent_p.P100P			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	100					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|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)		CCGCCAGCCCGGGCGAGCTGC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4228		0,0,2114	15	16	16		300	-8.4	0	19	dbSNP_134	16	3,8305		0,3,4151	no	coding-synonymous	HMHA1	NM_012292.2		0,3,6265	AA,AG,GG	NA	0.0361,0.0,0.0239		100/1137	1068622	3,12533	2114	4154	6268	SO:0001819	synonymous_variant			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448	23526	23526		Rho GTPase activating proteins	17102	protein-coding gene	gene with protein product		601155			NA	9820596, 9039502	Standard		NM_012292	NA	Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000586866.1:c.312G>A	19.37:g.1068622G>A		NA	Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	37																																																																																				HMHA1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458031.2		+	ENST00000586866.1	Silent	SNP	19 : 1068622 - 1068622 A PAAD-TCGA-US-A776-Tumor-SM-5437B	188	9
HNRNPL	3191	broad.mit.edu	37	19	39338057	39338057	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:39338057C>T	ENST00000221419.5	-	2	651	c.285G>A	c.(283-285)ccG>ccA	p.P95P	HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	95					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P95P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGTTTTGTGCGGGTCATCGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											85	75	78			NA	NA	19		NA											NA				39338057		2203	4300	6503	SO:0001819	synonymous_variant			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824	3191	3191		RNA binding motif (RRM) containing	5045	protein-coding gene	gene with protein product		603083		HNRPL	NA	2687284	Standard		NM_001533	NA	Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.285G>A	19.37:g.39338057C>T		NA	A6ND69|Q9H3P3	37	CCDS33015.1																																																																																			HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462670.1		-	ENST00000221419.5	Silent	SNP	19 : 39338057 - 39338057 T PAAD-TCGA-US-A776-Tumor-SM-5437B	447	5
IL3RA	3563	broad.mit.edu	37	X	1471384	1471384	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:1471384G>A	ENST00000331035.4	+	6	950	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	201						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TAAGTTTGTCGTCTTTTCACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	186	188			NA	NA	X		NA											NA				1471384		2203	4296	6499	SO:0001583	missense			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291	3563	3563		Pseudoautosomal regions / PAR1, Interleukins and interleukin receptors, CD molecules	6012	protein-coding gene	gene with protein product		308385, 430000			NA	1833064	Standard		NM_002183	NA	Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.601G>A	X.37:g.1471384G>A	ENSP00000327890:p.Val201Ile	NA	A8K3F3|B9VI81|Q5HYQ7	37	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.067	-1.210561	0.01555	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	D;D;D	0.83419	-1.72;-1.72;-1.72	1.75	-3.5	0.04710	Interleukin-6 receptor alpha chain, binding (1);	3.183580	0.01689	U	0.026593	T	0.68805	0.3041	N	0.22421	0.69	0.09310	N	1	P;P	0.48998	0.899;0.918	B;B	0.39706	0.145;0.307	T	0.64045	-0.6499	10	0.36615	T	0.2	-17.4739	3.4193	0.07388	0.1745:0.0:0.3307:0.4948	.	122;201	P26951-2;P26951	.;IL3RA_HUMAN	I	201;123;123	ENSP00000327890:V201I;ENSP00000414867:V123I;ENSP00000370878:V123I	ENSP00000327890:V201I	V	+	1	0	IL3RA	1431384	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-1.457000	0.02374	-2.153000	0.00793	-1.271000	0.01417	GTC	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055600.3		+	ENST00000331035.4	Missense_Mutation	SNP	X : 1471384 - 1471384 A PAAD-TCGA-US-A776-Tumor-SM-5437B	279	22
IMP3	55272	broad.mit.edu	37	15	75932242	75932242	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75932242G>C	ENST00000314852.2	-	2	1211	c.268C>G	c.(268-270)Ccc>Gcc	p.P90A	IMP3_ENST00000403490.1_Missense_Mutation_p.P90A			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	90					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CCGCGCGTGGGCACCAAGCCG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	12	12			NA	NA	15		NA											NA				75932242		2159	4236	6395	SO:0001583	missense			AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971	55272	55272			14497	protein-coding gene	gene with protein product		612980	mitochondrial ribosomal protein S4, chromosome 15 open reading frame 12, IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	MRPS4, C15orf12	NA	11543634, 12655004	Standard	NM_018285	NM_018285	NA	Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.268C>G	15.37:g.75932242G>C	ENSP00000326981:p.Pro90Ala	NA	B3KQ67|Q53G10	37	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457162	0.63401	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	T;T	0.35789	1.29;1.29	6.17	5.26	0.73747	.	0.119153	0.56097	D	0.000023	T	0.27349	0.0671	L	0.27053	0.805	0.54753	D	0.999984	B	0.19706	0.038	B	0.19391	0.025	T	0.04386	-1.0955	10	0.30078	T	0.28	-16.8425	13.6525	0.62318	0.0:0.1546:0.8454:0.0	.	90	Q9NV31	IMP3_HUMAN	A	90	ENSP00000326981:P90A;ENSP00000385217:P90A	ENSP00000326981:P90A	P	-	1	0	IMP3	73719297	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.252000	0.51461	1.615000	0.50252	0.655000	0.94253	CCC	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286476.1		-	ENST00000314852.2	Missense_Mutation	SNP	15 : 75932242 - 75932242 C PAAD-TCGA-US-A776-Tumor-SM-5437B	143	13
KCNH4	23415	broad.mit.edu	37	17	40321553	40321553	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40321553C>T	ENST00000264661.3	-	9	1864	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	511					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCGAGCATGCGCTGCTTGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(117;707 1703 2300 21308 31858)							NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79	72	74		1532	4.2	1	17		74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KCNH4	NM_012285.2	29	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging	511/1018	40321553	2,13004	2203	4300	6503	SO:0001583	missense			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558	23415	23415		Potassium channels, Voltage-gated ion channels / Potassium channels	6253	protein-coding gene	gene with protein product		604528			NA	10455180, 16382104	Standard	NM_012285	NM_012285	NA	Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1532G>A	17.37:g.40321553C>T	ENSP00000264661:p.Arg511His	NA		37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148528	0.94603	2.27E-4	1.16E-4	ENSG00000089558	ENST00000264661	D	0.97430	-4.38	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.38720	N	0.001587	D	0.98855	0.9613	H	0.94264	3.515	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99683	1.0999	10	0.87932	D	0	.	16.6694	0.85261	0.0:1.0:0.0:0.0	.	511	Q9UQ05	KCNH4_HUMAN	H	511	ENSP00000264661:R511H	ENSP00000264661:R511H	R	-	2	0	KCNH4	37575079	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.148000	0.66965	0.462000	0.41574	CGC	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449791.2		-	ENST00000264661.3	Missense_Mutation	SNP	17 : 40321553 - 40321553 T PAAD-TCGA-US-A776-Tumor-SM-5437B	370	157
KCNIP3	30818	broad.mit.edu	37	2	96049770	96049770	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:96049770C>T	ENST00000295225.5	+	9	879	c.744C>T	c.(742-744)tcC>tcT	p.S248S	KCNIP3_ENST00000468529.1_Silent_p.S222S|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Silent_p.S226S	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	248	Interaction with KCND2 (By similarity).				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TCATGAGCTCCATGCAGCTGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	131	132			NA	NA	2		NA											NA				96049770		2203	4300	6503	SO:0001819	synonymous_variant			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041	30818	30818		EF-hand domain containing	15523	protein-coding gene	gene with protein product		604662	calsenilin, presenilin-binding protein, EF hand transcription factor	CSEN	NA	9771752, 10078534	Standard	NM_013434	NM_013434	NA	Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.744C>T	2.37:g.96049770C>T		NA	Q3YAC3|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	37	CCDS2013.1																																																																																			KCNIP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252770.1		+	ENST00000295225.5	Silent	SNP	2 : 96049770 - 96049770 T PAAD-TCGA-US-A776-Tumor-SM-5437B	616	101
KCNS3	3790	broad.mit.edu	37	2	18112885	18112885	+	Missense_Mutation	SNP	G	G	A	rs144701569		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:18112885G>A	ENST00000403915.1	+	3	1061	c.610G>A	c.(610-612)Gtt>Att	p.V204I	KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	204					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCCATGTGCGTTCACAGCAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67	65	65		610	-2.3	0	2	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNS3	NM_002252.3	29	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	benign	204/492	18112885	2,13004	2203	4300	6503	SO:0001583	missense			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745	3790	3790		Potassium channels, Voltage-gated ion channels / Potassium channels	6302	protein-coding gene	gene with protein product		603888			NA	10484328, 16382104	Standard	NM_002252	NM_002252	NA	Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.610G>A	2.37:g.18112885G>A	ENSP00000385968:p.Val204Ile	NA	D6W520|O43651|Q96B56	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	1.511	-0.549535	0.03996	2.27E-4	1.16E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97455	-4.39;-4.39	6.07	-2.27	0.06846	.	0.373102	0.28865	N	0.013885	D	0.88603	0.6481	N	0.02420	-0.555	0.23712	N	0.997041	B	0.06786	0.001	B	0.04013	0.001	T	0.77643	-0.2511	10	0.39692	T	0.17	.	13.6407	0.62249	0.75:0.0:0.25:0.0	.	204	Q9BQ31	KCNS3_HUMAN	I	204	ENSP00000385968:V204I;ENSP00000305824:V204I	ENSP00000305824:V204I	V	+	1	0	KCNS3	17976366	0.851000	0.29673	0.002000	0.10522	0.531000	0.34715	1.304000	0.33482	-0.533000	0.06323	-1.553000	0.00894	GTT	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323808.1		+	ENST00000403915.1	Missense_Mutation	SNP	2 : 18112885 - 18112885 A PAAD-TCGA-US-A776-Tumor-SM-5437B	204	4
KDM2B	84678	broad.mit.edu	37	12	121878657	121878657	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121878657A>G	ENST00000377069.4	-	20	3771	c.3365T>C	c.(3364-3366)aTg>aCg	p.M1122T	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.M1191T|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1191					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGATCCCGCATCTGGGCATC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	44	42			NA	NA	12		NA											NA				121878657		2092	4221	6313	SO:0001583	missense			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094	84678	84678		F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases	13610	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1B	609078	F-box and leucine-rich repeat protein 10	FBXL10	NA	10799292	Standard	NM_032590	NM_032590	NA	Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377069.4:c.3365T>C	12.37:g.121878657A>G	ENSP00000366269:p.Met1122Thr	NA	Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	37	CCDS41849.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587506	0.86851	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.29655	1.56;1.56;1.56	5.92	5.92	0.95590	.	0.093076	0.46758	D	0.000261	T	0.41743	0.1172	L	0.44542	1.39	0.80722	D	1	P;D;D;P	0.59357	0.936;0.985;0.985;0.936	P;P;P;P	0.53518	0.642;0.728;0.535;0.642	T	0.28713	-1.0035	10	0.87932	D	0	-38.4419	16.3648	0.83312	1.0:0.0:0.0:0.0	.	631;1191;1122;634	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	T	1179;559;1122;1191;634;1194	ENSP00000437821:M559T;ENSP00000366269:M1122T;ENSP00000366271:M1191T	ENSP00000261824:M1194T	M	-	2	0	KDM2B	120363040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	ATG	KDM2B-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402131.2		-	ENST00000377069.4	Missense_Mutation	SNP	12 : 121878657 - 121878657 G PAAD-TCGA-US-A776-Tumor-SM-5437B	333	65
KLHL34	257240	broad.mit.edu	37	X	21675080	21675080	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:21675080C>T	ENST00000379499.2	-	1	1368	c.827G>A	c.(826-828)cGg>cAg	p.R276Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	276										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTGGGGGCTCCGGATGCTGGT	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	16			NA	NA	X		NA											NA				21675080		2197	4278	6475	SO:0001583	missense			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915	257240	257240		Kelch-like, BTB/POZ domain containing	26634	protein-coding gene	gene with protein product			kelch-like 34 (Drosophila)		NA		Standard	NM_153270	NM_153270	NA	Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.827G>A	X.37:g.21675080C>T	ENSP00000368813:p.Arg276Gln	NA		37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453847	0.63290	.	.	ENSG00000185915	ENST00000379499	T	0.78126	-1.15	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	M	0.71206	2.165	0.58432	D	0.999999	D	0.63046	0.992	P	0.51266	0.664	D	0.86073	0.1539	10	0.87932	D	0	.	17.0104	0.86405	0.0:1.0:0.0:0.0	.	276	Q8N239	KLH34_HUMAN	Q	276	ENSP00000368813:R276Q	ENSP00000368813:R276Q	R	-	2	0	KLHL34	21585001	1.000000	0.71417	0.977000	0.42913	0.136000	0.21042	7.323000	0.79105	2.194000	0.70268	0.422000	0.28245	CGG	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056022.1		-	ENST00000379499.2	Missense_Mutation	SNP	X : 21675080 - 21675080 T PAAD-TCGA-US-A776-Tumor-SM-5437B	115	13
LAMA5	3911	broad.mit.edu	37	20	60891034	60891034	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:60891034C>A	ENST00000252999.3	-	58	7903	c.7837G>T	c.(7837-7839)Gcg>Tcg	p.A2613S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2613	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGCGCCGCCTGGATGTGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	24	24			NA	NA	20		NA											NA				60891034		2186	4282	6468	SO:0001583	missense			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702	3911	3911		Laminins	6485	protein-coding gene	gene with protein product		601033			NA	9271224	Standard	NM_005560	NM_005560	NA	Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7837G>T	20.37:g.60891034C>A	ENSP00000252999:p.Ala2613Ser	NA	Q8TDF8|Q8WZA7|Q9H1P1	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	4.443	0.081997	0.08533	.	.	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.24	3.29	0.37713	.	0.752565	0.11809	U	0.527370	T	0.07188	0.0182	N	0.05124	-0.11	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.40117	-0.9580	10	0.08179	T	0.78	.	8.0425	0.30529	0.0:0.8833:0.0:0.1167	.	2613	O15230	LAMA5_HUMAN	S	2613	ENSP00000252999:A2613S	ENSP00000252999:A2613S	A	-	1	0	LAMA5	60324429	0.000000	0.05858	0.009000	0.14445	0.039000	0.13416	0.166000	0.16583	0.768000	0.33290	0.486000	0.48141	GCG	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080014.2		-	ENST00000252999.3	Missense_Mutation	SNP	20 : 60891034 - 60891034 A PAAD-TCGA-US-A776-Tumor-SM-5437B	86	5
LRRC23	10233	broad.mit.edu	37	12	7016602	7016602	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7016602T>A	ENST00000429740.1	+	3	490				LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000007969.8_Missense_Mutation_p.L205H|LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H|LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H|LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H			Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	NA										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CTGAAGAACCTCTACCTGGTA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	84	86			NA	NA	12		NA											NA				7016602		2203	4300	6503	SO:0001627	intron_variant			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626	10233	10233			19138	protein-coding gene	gene with protein product					NA	11830501, 11826754	Standard	NM_006992	NM_201650	NA	Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000429740.1:c.490+776T>A	12.37:g.7016602T>A		NA	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	37	CCDS8568.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325445	0.81580	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000436789	T;T;T;T;T	0.62364	0.59;0.03;0.37;0.03;1.11	5.59	5.59	0.84812	.	.	.	.	.	D	0.87398	0.6167	H	0.98542	4.26	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92330	0.5873	9	0.87932	D	0	-12.7044	15.7619	0.78091	0.0:0.0:0.0:1.0	.	205;205;205;205;205	C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;LRC23_HUMAN;.	H	205	ENSP00000402554:L205H;ENSP00000007969:L205H;ENSP00000317464:L205H;ENSP00000390932:L205H;ENSP00000396049:L205H	ENSP00000007969:L205H	L	+	2	0	LRRC23	6886863	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.624000	0.74243	2.120000	0.65058	0.379000	0.24179	CTC	LRRC23-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345223.1		+	ENST00000429740.1	Intron	SNP	12 : 7016602 - 7016602 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1500	28
LRRC32	2615	broad.mit.edu	37	11	76371472	76371472	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:76371472G>A	ENST00000464145.1	-	2	101				LRRC32_ENST00000407242.2_Missense_Mutation_p.R389W|LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W			Q14392	LRC32_HUMAN	leucine rich repeat containing 32	NA						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCGTCCGCAGAGACCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	20	20			NA	NA	11		NA											NA				76371472		2200	4292	6492	SO:0001627	intron_variant			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507	2615	2615			4161	protein-coding gene	gene with protein product		137207	glycoprotein A repetitions predominant	D11S833E, GARP	NA	8180135, 1543912	Standard	NM_005512	NM_005512	NA	Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000464145.1:c.466-2394C>T	11.37:g.76371472G>A		NA	Q86V06	37		.	.	.	.	.	.	.	.	.	.	G	8.836	0.941139	0.18281	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.59083	0.29;0.29;0.29	4.27	1.12	0.20585	.	0.538685	0.19466	N	0.113595	T	0.70649	0.3248	M	0.80847	2.515	0.09310	N	1	D	0.71674	0.998	P	0.57846	0.828	T	0.65853	-0.6067	10	0.56958	D	0.05	.	13.4636	0.61241	0.0:0.0:0.4464:0.5536	.	389	Q14392	LRC32_HUMAN	W	389	ENSP00000260061:R389W;ENSP00000384126:R389W;ENSP00000385766:R389W	ENSP00000260061:R389W	R	-	1	2	LRRC32	76049120	0.000000	0.05858	0.121000	0.21740	0.134000	0.20937	0.103000	0.15292	0.054000	0.16065	-0.500000	0.04577	CGG	LRRC32-003	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000257928.1		-	ENST00000464145.1	Intron	SNP	11 : 76371472 - 76371472 A PAAD-TCGA-US-A776-Tumor-SM-5437B	83	20
LRRC4B	94030	broad.mit.edu	37	19	51021944	51021944	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51021944C>T	ENST00000599957.1	-	3	1223	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	LRRC4B_ENST00000389201.3_Silent_p.A342A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	342	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCGGCGGGCGCATGACAGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	43	41			NA	NA	19		NA											NA				51021944		2137	4222	6359	SO:0001819	synonymous_variant			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	94030	94030		Immunoglobulin superfamily / I-set domain containing, Endogenous ligands	25042	protein-coding gene	gene with protein product	netrin-G3 ligand		leucine-rich repeats and immunoglobulin-like domains 4	LRIG4	NA	11441184	Standard	NM_001080457	NM_001080457	NA	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1026G>A	19.37:g.51021944C>T		NA	Q3ZCQ4|Q58F20	37	CCDS42595.1																																																																																			LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464907.1		-	ENST00000599957.1	Silent	SNP	19 : 51021944 - 51021944 T PAAD-TCGA-US-A776-Tumor-SM-5437B	417	62
LRRC8D	55144	broad.mit.edu	37	1	90399492	90399492	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:90399492G>A	ENST00000337338.5	+	3	1272	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	289						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCCCTGTTTGAGAAAGTGAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	42	42			NA	NA	1		NA											NA				90399492		2203	4300	6503	SO:0001583	missense			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492	55144	55144			16992	protein-coding gene	gene with protein product		612890	leucine rich repeat containing 5	LRRC5	NA		Standard	NM_018103	NM_018103	NA	Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.865G>A	1.37:g.90399492G>A	ENSP00000338887:p.Glu289Lys	NA	D3DT29|Q6UWB2|Q9NVW3	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419386	0.83559	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.43688	0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60596	-0.7232	9	.	.	.	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	289	Q7L1W4	LRC8D_HUMAN	K	289	ENSP00000338887:E289K;ENSP00000378093:E289K	.	E	+	1	0	LRRC8D	90172080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	GAG	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029203.2		+	ENST00000337338.5	Missense_Mutation	SNP	1 : 90399492 - 90399492 A PAAD-TCGA-US-A776-Tumor-SM-5437B	205	26
LRRN1	57633	broad.mit.edu	37	3	3887411	3887411	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:3887411T>A	ENST00000319331.3	+	2	1847	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	362						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCCTCCCCAATCTGCGTGAGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	3		NA											NA				3887411		2203	4300	6503	SO:0001583	missense			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928	57633	57633		Immunoglobulin superfamily / I-set domain containing	20980	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 3				NA	10819331	Standard	NM_020873	NM_020873	NA	Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1086T>A	3.37:g.3887411T>A	ENSP00000314901:p.Asn362Lys	NA	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952617	0.53293	.	.	ENSG00000175928	ENST00000319331	T	0.56444	0.46	5.54	0.382	0.16234	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	L	0.45422	1.42	0.43421	D	0.995572	D	0.54772	0.968	P	0.50970	0.655	T	0.39187	-0.9626	10	0.33940	T	0.23	.	10.5818	0.45259	0.0:0.5557:0.0:0.4443	.	362	Q6UXK5	LRRN1_HUMAN	K	362	ENSP00000314901:N362K	ENSP00000314901:N362K	N	+	3	2	LRRN1	3862411	0.893000	0.30496	1.000000	0.80357	0.997000	0.91878	0.012000	0.13287	0.079000	0.16929	0.528000	0.53228	AAT	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337704.2		+	ENST00000319331.3	Missense_Mutation	SNP	3 : 3887411 - 3887411 A PAAD-TCGA-US-A776-Tumor-SM-5437B	362	10
MAGEA8	4107	broad.mit.edu	37	X	149013926	149013926	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:149013926G>A	ENST00000542674.1	+	3	1401	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	MAGEA8_ENST00000535454.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	294	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCATGTGGTCAGGGTCAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	115	117			NA	NA	X		NA											NA				149013926		2203	4298	6501	SO:0001583	missense				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009	4107	4107			6806	protein-coding gene	gene with protein product	MAGE-8 antigen, cancer/testis antigen family 1, member 8	300341		MAGE8	NA	8575766	Standard	NM_005364	NM_005364	NA	Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.880G>A	X.37:g.149013926G>A	ENSP00000443776:p.Val294Ile	NA	Q9BUN9	37	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	3.209	-0.162021	0.06502	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.01629	4.72;4.72;4.72	1.0	-2.01	0.07410	.	1.351960	0.04740	N	0.422606	T	0.01254	0.0041	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	10	0.62326	D	0.03	.	1.746	0.02962	0.257:0.0:0.4215:0.3215	.	294	P43361	MAGA8_HUMAN	I	294	ENSP00000438293:V294I;ENSP00000443776:V294I;ENSP00000286482:V294I	ENSP00000286482:V294I	V	+	1	0	MAGEA8	148774584	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.569000	0.05902	-0.838000	0.04218	-1.043000	0.02367	GTC	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058728.1		+	ENST00000542674.1	Missense_Mutation	SNP	X : 149013926 - 149013926 A PAAD-TCGA-US-A776-Tumor-SM-5437B	451	85
MARCO	8685	broad.mit.edu	37	2	119739962	119739962	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:119739962C>A	ENST00000327097.4	+	12	1174	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M	MARCO_ENST00000541757.1_Missense_Mutation_p.L269M	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	347	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGCCACAGGCCTGAAAGGAAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(8;18 374 7467 11269 32796)							NA				0													159	168	165			NA	NA	2		NA											NA				119739962		2203	4300	6503	SO:0001583	missense			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169	8685	8685			6895	protein-coding gene	gene with protein product	scavenger receptor class A, member 2	604870			NA	9468508, 7867067, 10331948	Standard	NM_006770	NM_006770	NA	Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1039C>A	2.37:g.119739962C>A	ENSP00000318916:p.Leu347Met	NA	Q9Y5S3	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546757	0.13312	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93712	-3.27;-3.27	4.96	-7.28	0.01456	.	1.405680	0.04250	N	0.338481	D	0.86062	0.5843	L	0.45137	1.4	0.09310	N	1	P	0.34546	0.456	B	0.29716	0.106	T	0.76589	-0.2904	9	.	.	.	.	4.354	0.11169	0.4457:0.1275:0.3468:0.08	.	347	Q9UEW3	MARCO_HUMAN	M	347;347;269	ENSP00000318916:L347M;ENSP00000441769:L269M	.	L	+	1	2	MARCO	119456432	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-4.595000	0.00211	-0.929000	0.03757	-0.182000	0.12963	CTG	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254190.2		+	ENST00000327097.4	Missense_Mutation	SNP	2 : 119739962 - 119739962 A PAAD-TCGA-US-A776-Tumor-SM-5437B	881	146
MLH3	27030	broad.mit.edu	37	14	75513333	75513333	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:75513333A>G	ENST00000238662.7	-	2	3241	c.3026T>C	c.(3025-3027)gTa>gCa	p.V1009A	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A|MLH3_ENST00000556740.1_Missense_Mutation_p.V1009A|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000355774.2_Missense_Mutation_p.V1009A	NM_014381.2	NP_055196.2	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1009					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGCATCTTCTACCGGATTCAT	0.398		NA						Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	117	117			NA	NA	14		NA											NA				75513333		2203	4300	6503	SO:0001583	missense			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684	27030	27030			7128	protein-coding gene	gene with protein product		604395	mutL (E. coli) homolog 3, mutL homolog 3 (E. coli)		NA	10615123	Standard	NM_014381	XR_245681	NA	Approved		uc001xrd.1	Q9UHC1		ENST00000238662.7:c.3026T>C	14.37:g.75513333A>G	ENSP00000238662:p.Val1009Ala	NA	P49751|Q56DK9|Q9P292|Q9UHC0	37	CCDS9837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.500|6.500	0.460452|0.460452	0.12342|0.12342	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985|ENST00000553713	T;T;T;T;T|.	0.81247|.	-1.42;-1.42;-1.47;-1.42;0.25|.	5.19|5.19	-5.73|-5.73	0.02398|0.02398	.|.	1.706310|.	0.02897|.	N|.	0.134820|.	T|.	0.34861|.	0.0912|.	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.004|.	B;B|.	0.11329|.	0.006;0.003|.	T|.	0.39941|.	-0.9589|.	10|.	0.27785|.	T|.	0.31|.	2.2606|2.2606	1.3007|1.3007	0.02078|0.02078	0.3215:0.3316:0.1286:0.2183|0.3215:0.3316:0.1286:0.2183	.|.	1009;1009|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	A|Q	1009;1009;1009;1009;4|66	ENSP00000348020:V1009A;ENSP00000238662:V1009A;ENSP00000451540:V1009A;ENSP00000452316:V1009A;ENSP00000441371:V4A|.	ENSP00000238662:V1009A|.	V|X	-|-	2|1	0|0	MLH3|MLH3	74583086|74583086	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.147000|0.147000	0.16202|0.16202	-1.130000|-1.130000	0.02914|0.02914	0.528000|0.528000	0.53228|0.53228	GTA|TAG	MLH3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415002.1		-	ENST00000238662.7	Missense_Mutation	SNP	14 : 75513333 - 75513333 G PAAD-TCGA-US-A776-Tumor-SM-5437B	808	143
MPP2	4355	broad.mit.edu	37	17	41955246	41955246	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:41955246G>A	ENST00000377184.3	-	12	1684	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000269095.4_Missense_Mutation_p.R530C|MPP2_ENST00000461854.1_Missense_Mutation_p.R554C|MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C	NM_001278371.1|NM_001278372.1|NM_001278373.1|NM_001278374.1|NM_001278375.1|NM_001278376.1	NP_001265300.1|NP_001265301.1|NP_001265302.1|NP_001265303.1|NP_001265304.1|NP_001265305.1	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGAGCTCGCGGAAGGTCCTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	97	85	89		1588	2.2	0.3	17		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP2	NM_005374.3	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	530/553	41955246	1,13005	2203	4300	6503	SO:0001583	missense				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852	4355	4355			7220	protein-coding gene	gene with protein product	MAGUK p55 subfamily member 2, discs large, homolog 2	600723		DLG2	NA	7590743	Standard	NM_005374	NM_001278370	NA	Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000377184.3:c.1639C>T	17.37:g.41955246G>A	ENSP00000366389:p.Arg547Cys	NA	Q53ES9|Q5CZB9|Q9BQJ2	37		.	.	.	.	.	.	.	.	.	.	g	18.17	3.564385	0.65651	0.0	1.16E-4	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.35	2.2	0.27929	.	.	.	.	.	T	0.54647	0.1871	M	0.62723	1.935	0.54753	D	0.999988	D;D	0.76494	0.999;0.998	D;P	0.65140	0.932;0.888	T	0.52147	-0.8614	9	0.66056	D	0.02	.	8.7608	0.34674	0.0797:0.2865:0.6338:0.0	.	575;547	E7EV80;Q14168-3	.;.	C	547;530;554;391;519;519;575	ENSP00000366389:R547C;ENSP00000269095:R530C;ENSP00000428286:R554C;ENSP00000428136:R391C;ENSP00000430540:R519C;ENSP00000438012:R519C;ENSP00000428182:R575C	ENSP00000269095:R530C	R	-	1	0	MPP2	39310772	0.988000	0.35896	0.279000	0.24732	0.984000	0.73092	2.129000	0.42055	0.236000	0.21180	0.555000	0.69702	CGC	MPP2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000258387.1		-	ENST00000377184.3	Missense_Mutation	SNP	17 : 41955246 - 41955246 A PAAD-TCGA-US-A776-Tumor-SM-5437B	471	202
MYH1	4619	broad.mit.edu	37	17	10416957	10416957	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:10416957G>A	ENST00000226207.5	-	9	885	c.791C>T	c.(790-792)gCt>gTt	p.A264V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	264	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAATATCAGCAGAAGCCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	113	114			NA	NA	17		NA											NA				10416957		2203	4300	6503	SO:0001583	missense				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061	4619	4619		Myosins / Myosin superfamily : Class II	7567	protein-coding gene	gene with protein product	myosin heavy chain IIx/d	160730	myosin, heavy polypeptide 1, skeletal muscle, adult		NA	6304733	Standard	NM_005963	NM_005963	NA	Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.791C>T	17.37:g.10416957G>A	ENSP00000226207:p.Ala264Val	NA	Q14CA4|Q9Y622	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155559	0.94686	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.79247	-1.25	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000638	D	0.91222	0.7234	H	0.95224	3.64	0.80722	D	1	D	0.59767	0.986	P	0.61328	0.887	D	0.92981	0.6406	10	0.59425	D	0.04	.	19.6888	0.95989	0.0:0.0:1.0:0.0	.	264	P12882	MYH1_HUMAN	V	264	ENSP00000226207:A264V	ENSP00000226207:A264V	A	-	2	0	MYH1	10357682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.726000	0.74758	2.715000	0.92844	0.655000	0.94253	GCT	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252725.1		-	ENST00000226207.5	Missense_Mutation	SNP	17 : 10416957 - 10416957 A PAAD-TCGA-US-A776-Tumor-SM-5437B	354	10
MYO5A	4644	broad.mit.edu	37	15	52667657	52667657	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52667657G>A	ENST00000399231.3	-	20	2664	c.2421C>T	c.(2419-2421)tgC>tgT	p.C807C	MYO5A_ENST00000358212.6_Splice_Site_p.C807C|MYO5A_ENST00000356338.6_Splice_Site_p.C807C|MYO5A_ENST00000553916.1_Splice_Site_p.C807C|MYO5A_ENST00000399233.2_Splice_Site_p.C807C	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	807	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTAGCATAGCTGGCCAAAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	15		NA											NA				52667657		1885	4115	6000	SO:0001630	splice_region_variant				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535	4644	4644		Myosins / Myosin superfamily : Class V	7602	protein-coding gene	gene with protein product	myosin, heavy polypeptide kinase, myosin heavy chain 12, myoxin, myosin V	160777	myosin VA (heavy polypeptide 12, myoxin)	MYH12	NA	8188282, 8022818	Standard	NM_000259	NM_000259	NA	Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2421-1C>T	15.37:g.52667657G>A		NA	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	37	CCDS42037.1																																																																																			MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268102.1	Silent	-	ENST00000399231.3	Splice_Site	SNP	15 : 52667657 - 52667657 A PAAD-TCGA-US-A776-Tumor-SM-5437B	245	5
MYO5A	4644	broad.mit.edu	37	15	52676446	52676446	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52676446C>T	ENST00000399231.3	-	15	2069	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	MYO5A_ENST00000358212.6_Missense_Mutation_p.R609H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R609H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R609H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R609H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	609	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R609H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGGGTGTGCGCCCTGAGGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											131	145	141			NA	NA	15		NA											NA				52676446		2057	4201	6258	SO:0001583	missense				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535	4644	4644		Myosins / Myosin superfamily : Class V	7602	protein-coding gene	gene with protein product	myosin, heavy polypeptide kinase, myosin heavy chain 12, myoxin, myosin V	160777	myosin VA (heavy polypeptide 12, myoxin)	MYH12	NA	8188282, 8022818	Standard	NM_000259	NM_000259	NA	Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1826G>A	15.37:g.52676446C>T	ENSP00000382177:p.Arg609His	NA	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309471	0.81247	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.38	5.38	0.77491	Myosin head, motor domain (2);	0.117044	0.64402	D	0.000014	D	0.85159	0.5633	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.51582	0.652;0.674	D	0.85884	0.1424	10	0.42905	T	0.14	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	609;609	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	609;143;609;609;609;239;609	ENSP00000382177:R609H;ENSP00000382179:R609H;ENSP00000348693:R609H;ENSP00000350945:R609H;ENSP00000451109:R609H	ENSP00000348693:R609H	R	-	2	0	MYO5A	50463738	0.997000	0.39634	0.983000	0.44433	0.443000	0.32047	3.792000	0.55476	2.520000	0.84964	0.650000	0.86243	CGC	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268102.1		-	ENST00000399231.3	Missense_Mutation	SNP	15 : 52676446 - 52676446 T PAAD-TCGA-US-A776-Tumor-SM-5437B	541	6
NLRP10	338322	broad.mit.edu	37	11	7982120	7982120	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:7982120G>T	ENST00000328600.2	-	2	1200	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTTGTAGAGAATGTCATTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	83	86			NA	NA	11		NA											NA				7982120		2201	4296	6497	SO:0001583	missense			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261	338322	338322		Nucleotide-binding domain and leucine rich repeat containing	21464	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10	609662	NACHT, leucine rich repeat and PYD containing 10	NALP10	NA	12563287	Standard	NM_176821	NM_176821	NA	Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1039C>A	11.37:g.7982120G>T	ENSP00000327763:p.Leu347Ile	NA	Q2M3C4|Q6JGT0	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875656	0.33162	.	.	ENSG00000182261	ENST00000328600	T	0.80480	-1.38	5.11	1.99	0.26369	NACHT nucleoside triphosphatase (1);	0.000000	0.34986	N	0.003539	D	0.87553	0.6206	M	0.90425	3.115	0.18873	N	0.999986	D	0.71674	0.998	D	0.64144	0.922	T	0.77789	-0.2456	10	0.87932	D	0	.	4.2127	0.10519	0.0913:0.1563:0.5919:0.1605	.	347	Q86W26	NAL10_HUMAN	I	347	ENSP00000327763:L347I	ENSP00000327763:L347I	L	-	1	0	NLRP10	7938696	0.995000	0.38212	0.564000	0.28396	0.002000	0.02628	3.441000	0.52893	0.653000	0.30826	-0.176000	0.13171	CTC	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385705.1		-	ENST00000328600.2	Missense_Mutation	SNP	11 : 7982120 - 7982120 T PAAD-TCGA-US-A776-Tumor-SM-5437B	646	66
NLRP8	126205	broad.mit.edu	37	19	56467042	56467042	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:56467042C>T	ENST00000291971.3	+	3	1689	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATATCCAGCGCCTGATAGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	19		NA											NA				56467042		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1618C>T	19.37:g.56467042C>T	ENSP00000291971:p.Arg540Cys	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.528	-0.096249	0.07010	.	.	ENSG00000179709	ENST00000291971	D	0.88354	-2.37	2.04	-4.08	0.03963	.	.	.	.	.	T	0.77061	0.4075	L	0.28400	0.85	0.09310	N	1	B;B	0.28512	0.214;0.004	B;B	0.19391	0.025;0.002	T	0.61540	-0.7042	9	0.54805	T	0.06	.	3.8082	0.08786	0.1866:0.2595:0.0:0.5539	.	540;540	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	540	ENSP00000291971:R540C	ENSP00000291971:R540C	R	+	1	0	NLRP8	61158854	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.174000	0.01264	-1.334000	0.02244	-0.290000	0.09829	CGC	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56467042 - 56467042 T PAAD-TCGA-US-A776-Tumor-SM-5437B	478	16
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	95					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	93	95			NA	NA	6		NA											NA				24145869		2203	4300	6503	SO:0001583	missense			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954	140767	140767			17881	protein-coding gene	gene with protein product			vesicular membrane protein p24	VMP	NA	12463420	Standard	NM_080723	NM_080723	NA	Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.283G>A	6.37:g.24145869G>A	ENSP00000367752:p.Glu95Lys	NA	B2RAV4|Q8N8R6|Q96P21	37	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990408	0.35131	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.18960	2.18	5.37	5.37	0.77165	.	0.095551	0.64402	D	0.000001	T	0.10508	0.0257	L	0.46157	1.445	0.80722	D	1	B	0.21309	0.054	B	0.12156	0.007	T	0.03025	-1.1081	10	0.41790	T	0.15	-7.9822	12.8894	0.58064	0.0846:0.0:0.9154:0.0	.	95	Q8IZ57	NRSN1_HUMAN	K	95	ENSP00000367752:E95K	ENSP00000367738:E95K	E	+	1	0	NRSN1	24253848	1.000000	0.71417	0.930000	0.37139	0.172000	0.22775	4.652000	0.61454	2.524000	0.85096	0.557000	0.71058	GAA	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043866.1		+	ENST00000378491.4	Missense_Mutation	SNP	6 : 24145869 - 24145869 A PAAD-TCGA-US-A776-Tumor-SM-5437B	549	7
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATTTAGCTGCGATATGTGTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	175	178			NA	NA	1		NA											NA				154072575		1937	4152	6089	SO:0001583	missense			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552	91181	91181			29915	protein-coding gene	gene with protein product					NA		Standard	NM_207308	NM_207308	NA	Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1864G>A	1.37:g.154072575C>T	ENSP00000357547:p.Ala622Thr	NA	Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087270.3		-	ENST00000368559.3	Missense_Mutation	SNP	1 : 154072575 - 154072575 T PAAD-TCGA-US-A776-Tumor-SM-5437B	676	149
OR2A2	442361	broad.mit.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	108	107			NA	NA	7		NA											NA				143807373		2071	4233	6304	SO:0001583	missense				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989	442361	442361		GPCR / Class A : Olfactory receptors	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P	NA		Standard		NM_001005480	NA	Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.698G>A	7.37:g.143807373G>A	ENSP00000386209:p.Arg233His	NA	B2RN85|Q8NGT6	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880455	0.33255	.	.	ENSG00000221989	ENST00000408979	T	0.00333	8.07	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33327	U	0.005027	T	0.00524	0.0017	M	0.89904	3.07	0.09310	N	1	P	0.35821	0.523	B	0.40940	0.344	T	0.08027	-1.0742	10	0.72032	D	0.01	-4.2634	12.7847	0.57498	0.0:0.0:1.0:0.0	.	233	Q6IF42	OR2A2_HUMAN	H	233	ENSP00000386209:R233H	ENSP00000386209:R233H	R	+	2	0	OR2A2	143438306	0.000000	0.05858	0.365000	0.25901	0.643000	0.38383	0.412000	0.21131	1.938000	0.56188	0.511000	0.50034	CGC	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349978.1		+	ENST00000408979.2	Missense_Mutation	SNP	7 : 143807373 - 143807373 A PAAD-TCGA-US-A776-Tumor-SM-5437B	780	7
OR2T4	127074	broad.mit.edu	37	1	248525478	248525478	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:248525478C>T	ENST00000366475.1	+	1	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGACCTTCCCCTTCCGTGGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	202	210			NA	NA	1		NA											NA				248525478		2203	4300	6503	SO:0001583	missense			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944	127074	127074		GPCR / Class A : Olfactory receptors	15016	protein-coding gene	gene with protein product					NA		Standard	NM_001004696	NM_001004696	NA	Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.596C>T	1.37:g.248525478C>T	ENSP00000355431:p.Pro199Leu	NA	Q6IEZ8	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234689	0.39498	.	.	ENSG00000196944	ENST00000366475	T	0.38560	1.13	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000280	T	0.53738	0.1815	M	0.85945	2.785	0.09310	N	1	P	0.40731	0.728	P	0.49853	0.624	T	0.53394	-0.8445	10	0.87932	D	0	.	5.5708	0.17196	0.1974:0.6958:0.0:0.1068	.	199	Q8NH00	OR2T4_HUMAN	L	199	ENSP00000355431:P199L	ENSP00000355431:P199L	P	+	2	0	OR2T4	246592101	0.011000	0.17503	0.409000	0.26459	0.693000	0.40251	2.577000	0.46042	1.543000	0.49345	0.585000	0.79938	CCC	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097349.2		+	ENST00000366475.1	Missense_Mutation	SNP	1 : 248525478 - 248525478 T PAAD-TCGA-US-A776-Tumor-SM-5437B	995	8
OR52E4	390081	broad.mit.edu	37	11	5905894	5905894	+	Silent	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:5905894C>A	ENST00000316987.2	+	1	394	c.372C>A	c.(370-372)cgC>cgA	p.R124R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTATGACCGCTTTGTTGCCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	112	117			NA	NA	11		NA											NA				5905894		2201	4296	6497	SO:0001819	synonymous_variant			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974	390081	390081		GPCR / Class A : Olfactory receptors	15213	protein-coding gene	gene with protein product					NA		Standard	NM_001005165	NM_001005165	NA	Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.372C>A	11.37:g.5905894C>A		NA	Q6IFG0	37	CCDS31401.1																																																																																			OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401146.1		+	ENST00000316987.2	Silent	SNP	11 : 5905894 - 5905894 A PAAD-TCGA-US-A776-Tumor-SM-5437B	658	27
OR8G5	219865	broad.mit.edu	37	11	124135465	124135465	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:124135465C>T	ENST00000524943.2	+	1	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5	NA											NA		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CCCAGCCTGACCATCCTCAGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(169;523 1969 8640 31295 51256)							NA				0													132	132	132			NA	NA	11		NA											NA				124135465		2157	4271	6428	SO:0001583	missense			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298	219865	219865		GPCR / Class A : Olfactory receptors	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6	NA		Standard	NM_001005198	NM_001005198	NA	Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.743C>T	11.37:g.124135465C>T	ENSP00000477014:p.Thr248Ile	NA		37																																																																																				OR8G5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000387283.2		+	ENST00000524943.2	Missense_Mutation	SNP	11 : 124135465 - 124135465 T PAAD-TCGA-US-A776-Tumor-SM-5437B	525	138
OR8I2	120586	broad.mit.edu	37	11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTCCTGAGCAATTTAGCAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	224	227			NA	NA	11		NA											NA				55860975		2201	4296	6497	SO:0001583	missense			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154	120586	120586		GPCR / Class A : Olfactory receptors	15310	protein-coding gene	gene with protein product					NA		Standard	NM_001003750	NM_001003750	NA	Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.192C>A	11.37:g.55860975C>A	ENSP00000303864:p.Ser64Arg	NA	B2RNN4|Q6IFC0|Q96RC5	37	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495481	0.12762	.	.	ENSG00000172154	ENST00000302124	T	0.01099	5.34	4.5	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000185	T	0.02571	0.0078	L	0.49699	1.58	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.38457	-0.9660	10	0.62326	D	0.03	-13.639	11.3591	0.49633	0.0:0.9093:0.0:0.0906	.	64	Q8N0Y5	OR8I2_HUMAN	R	64	ENSP00000303864:S64R	ENSP00000303864:S64R	S	+	3	2	OR8I2	55617551	0.000000	0.05858	0.711000	0.30485	0.023000	0.10783	-3.398000	0.00484	2.225000	0.72522	0.440000	0.28878	AGC	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000302124.2	Missense_Mutation	SNP	11 : 55860975 - 55860975 A PAAD-TCGA-US-A776-Tumor-SM-5437B	556	15
ORC3	23595	broad.mit.edu	37	6	88375514	88375514	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:88375514A>G	ENST00000392844.3	+	19	2041	c.1993A>G	c.(1993-1995)Aat>Gat	p.N665D	ORC3_ENST00000257789.4_Missense_Mutation_p.N666D|ORC3_ENST00000546266.1_Missense_Mutation_p.N522D	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	665					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AATGGATGCAAATTCTGCAAC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	55			NA	NA	6		NA											NA				88375514		2203	4299	6502	SO:0001583	missense			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336	23595	23595			8489	protein-coding gene	gene with protein product		604972	origin recognition complex, subunit 3 (yeast homolog)-like, origin recognition complex, subunit 3-like (yeast), origin recognition complex, subunit 3 honolog (yeast)	ORC3L	NA	9829972, 10402192	Standard		NM_181837	NA	Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1993A>G	6.37:g.88375514A>G	ENSP00000376586:p.Asn665Asp	NA	A2A2T5|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	37	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	A	2.638	-0.284914	0.05605	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.12039	3.05;3.05;2.72	5.85	2.07	0.26955	.	0.428631	0.27522	N	0.018983	T	0.00936	0.0031	N	0.01209	-0.955	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.47262	-0.9131	10	0.06494	T	0.89	-1.2314	9.5362	0.39224	0.6376:0.0:0.3624:0.0	.	603;665;666	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	D	665;666;522	ENSP00000376586:N665D;ENSP00000257789:N666D;ENSP00000444695:N522D	ENSP00000257789:N666D	N	+	1	0	ORC3	88432233	1.000000	0.71417	0.135000	0.22099	0.997000	0.91878	2.531000	0.45650	0.115000	0.18071	0.533000	0.62120	AAT	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041452.2		+	ENST00000392844.3	Missense_Mutation	SNP	6 : 88375514 - 88375514 G PAAD-TCGA-US-A776-Tumor-SM-5437B	150	33
PAPPA2	60676	broad.mit.edu	37	1	176564512	176564512	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:176564512T>A	ENST00000367662.3	+	3	2936	c.1772T>A	c.(1771-1773)aTt>aAt	p.I591N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	591	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGCAAGATTGGCAATGAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	122	121			NA	NA	1		NA											NA				176564512		2095	4228	6323	SO:0001583	missense			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	60676	60676			14615	protein-coding gene	gene with protein product			placenta-specific 3	PLAC3	NA	11018262, 11264294	Standard		NM_021936	NA	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1772T>A	1.37:g.176564512T>A	ENSP00000356634:p.Ile591Asn	NA	Q96PH7|Q96PH8|Q9H4C9	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910769	0.52439	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.51325	3.96;0.71	5.24	5.24	0.73138	Notch domain (2);	0.381407	0.27531	N	0.018942	T	0.59418	0.2192	L	0.36672	1.1	0.43971	D	0.996659	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.973	T	0.63193	-0.6692	10	0.87932	D	0	-6.9095	14.8259	0.70113	0.0:0.0:0.0:1.0	.	591;591	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	591	ENSP00000356634:I591N;ENSP00000356633:I591N	ENSP00000356633:I591N	I	+	2	0	PAPPA2	174831135	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.897000	0.87356	1.976000	0.57569	0.528000	0.53228	ATT	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084763.1		+	ENST00000367662.3	Missense_Mutation	SNP	1 : 176564512 - 176564512 A PAAD-TCGA-US-A776-Tumor-SM-5437B	601	118
PAQR6	79957	broad.mit.edu	37	1	156215327	156215327	+	Splice_Site	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156215327delG	ENST00000335852.1	-	4	808	c.193delC	c.(193-195)cgt>gt	p.R65fs	PAQR6_ENST00000356983.2_Splice_Site_p.R65fs|PAQR6_ENST00000368270.1_Splice_Site_p.R147fs|PAQR6_ENST00000292291.5_Splice_Site_p.R171fs|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Splice_Site_p.R168fs	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	171						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGAACCCACCGGGAGTAGCAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(16;219 398 12385 32425 38531)							NA				0													34	39	37			NA	NA	1		NA											NA				156215327		2192	4282	6474	SO:0001630	splice_region_variant			AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781	79957	79957			30132	protein-coding gene	gene with protein product		614579			NA	12477932	Standard	NM_024897	NM_024897	NA	Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000335852.1:c.194+1C>-	1.37:g.156215327delG		NA	D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	37	CCDS1135.1																																																																																			PAQR6-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046302.1	Frame_Shift_Del	-	ENST00000335852.1	Splice_Site	DEL	1 : 156215327 - 156215327 - PAAD-TCGA-US-A776-Tumor-SM-5437B	377	138
PARS2	25973	broad.mit.edu	37	1	55223794	55223794	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:55223794G>A	ENST00000371279.3	-	2	1123	c.1041C>T	c.(1039-1041)atC>atT	p.I347I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	347					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCCAAGATCCGTGTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	1		NA											NA				55223794		2203	4300	6503	SO:0001819	synonymous_variant			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	25973	25973	6.1.1.15	Aminoacyl tRNA synthetases / Class II	30563	protein-coding gene	gene with protein product	proline tRNA ligase 2, mitochondrial (putative)	612036			NA	15779907	Standard	NM_152268	NM_152268	NA	Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.1041C>T	1.37:g.55223794G>A		NA	A8K0W4|Q9H6S5|Q9UFT1	37	CCDS597.1																																																																																			PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027436.1		-	ENST00000371279.3	Silent	SNP	1 : 55223794 - 55223794 A PAAD-TCGA-US-A776-Tumor-SM-5437B	746	392
PAX7	5081	broad.mit.edu	37	1	19018438	19018438	+	Silent	SNP	G	G	A	rs150824825	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:19018438G>A	ENST00000420770.2	+	5	860	c.777G>A	c.(775-777)gcG>gcA	p.A259A	PAX7_ENST00000400661.3_Silent_p.A257A|PAX7_ENST00000375375.3_Silent_p.A259A	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	259					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TGACAGAGGCGCGTGTGCAGG	0.592		NA	T	FOXO1A	alveolar rhabdomyosarcoma								G	8	0.0037	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0037	1	LOWCOV,EXOME	NA	NA	0.0027	SNP			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0								G	,,	25,4377	30.8+/-60.4	0,25,2176	37	33	34		777,777,771	-6.3	1	1	dbSNP_134	34	5,8591	4.3+/-15.6	0,5,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	PAX7	NM_001135254.1,NM_002584.2,NM_013945.2	,,	0,30,6469	AA,AG,GG	NA	0.0582,0.5679,0.2308	,,	259/506,259/521,257/519	19018438	30,12968	2201	4298	6499	SO:0001819	synonymous_variant			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709	5081	5081		Paired boxes, Homeoboxes / PRD class	8621	protein-coding gene	gene with protein product		167410	paired box gene 7		NA	7981748, 8431641	Standard	NM_002584	NM_001135254	NA	Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000420770.2:c.777G>A	1.37:g.19018438G>A		NA	Q0VA99	37	CCDS44074.1																																																																																			PAX7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372482.1		+	ENST00000420770.2	Silent	SNP	1 : 19018438 - 19018438 A PAAD-TCGA-US-A776-Tumor-SM-5437B	120	16
PCBP3	54039	broad.mit.edu	37	21	47360016	47360016	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:47360016A>C	ENST00000400314.1	+	15	1320	c.982A>C	c.(982-984)Aaa>Caa	p.K328Q	PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q|PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	328	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGCTCAGATCAAAATCGCCAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	79	77			NA	NA	21		NA											NA				47360016		2106	4241	6347	SO:0001583	missense			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570	54039	54039			8651	protein-coding gene	gene with protein product		608502	poly(rC)-binding protein 3		NA	10936052	Standard		NM_020528	NA	Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.982A>C	21.37:g.47360016A>C	ENSP00000383168:p.Lys328Gln	NA	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	37	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102102	0.76983	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.19	3.04	0.35103	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.255699	0.38778	N	0.001576	T	0.42223	0.1193	L	0.45051	1.395	0.54753	D	0.999989	D;D;D;D;P	0.89917	1.0;1.0;0.987;1.0;0.919	D;D;P;D;P	0.91635	0.999;0.998;0.805;0.995;0.73	T	0.09292	-1.0681	10	0.31617	T	0.26	-15.0996	9.4418	0.38673	0.9154:0.0:0.0846:0.0	.	318;302;327;328;308	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	Q	328;308;327;302;328;308;279;318	ENSP00000383168:K328Q;ENSP00000383165:K308Q;ENSP00000383164:K327Q;ENSP00000383163:K302Q;ENSP00000401198:K328Q;ENSP00000383160:K279Q;ENSP00000383159:K318Q	ENSP00000330225:K308Q	K	+	1	0	PCBP3	46184444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.536000	0.90627	0.670000	0.31165	0.448000	0.29417	AAA	PCBP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206808.2		+	ENST00000400314.1	Missense_Mutation	SNP	21 : 47360016 - 47360016 C PAAD-TCGA-US-A776-Tumor-SM-5437B	477	56
PCDHB13	56123	broad.mit.edu	37	5	140595334	140595334	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140595334G>C	ENST00000341948.4	+	1	1826	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	547	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGCGCTGGTGCGCGTGGT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	42	40			NA	NA	5		NA											NA				140595334		2202	4298	6500	SO:0001583	missense			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372	56123	56123		Cadherins / Protocadherins : Clustered	8684	other	protocadherin		606339			NA	10380929	Standard	NM_018933	NM_018933	NA	Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1639G>C	5.37:g.140595334G>C	ENSP00000345491:p.Val547Leu	NA		37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.98	2.697594	0.48307	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.57107	0.42	3.0	1.08	0.20341	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.57475	0.2056	L	0.60012	1.86	0.27453	N	0.953362	D	0.65815	0.995	P	0.59012	0.85	T	0.48758	-0.9007	9	0.23891	T	0.37	.	6.7901	0.23695	0.1012:0.3395:0.5593:0.0	.	547	Q9Y5F0	PCDBD_HUMAN	L	547	ENSP00000345491:V547L	ENSP00000345491:V547L	V	+	1	0	PCDHB13	140575518	0.984000	0.35163	0.014000	0.15608	0.002000	0.02628	2.074000	0.41529	0.106000	0.17784	-0.535000	0.04281	GTG	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251810.1		+	ENST00000341948.4	Missense_Mutation	SNP	5 : 140595334 - 140595334 C PAAD-TCGA-US-A776-Tumor-SM-5437B	556	108
PDE10A	10846	broad.mit.edu	37	6	165846554	165846554	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:165846554A>T	ENST00000366882.1	-	8	725	c.571T>A	c.(571-573)Tta>Ata	p.L191I	PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I|PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	191	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACAATTGGTAAGCAAAGAACA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(22;308 615 5753 12038 40624)							NA				0													113	106	108			NA	NA	6		NA											NA				165846554		2203	4300	6503	SO:0001583	missense			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	10846	10846	3.1.4.17	Phosphodiesterases	8772	protein-coding gene	gene with protein product		610652			NA	10373451	Standard		NM_001130690	NA	Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.571T>A	6.37:g.165846554A>T	ENSP00000355847:p.Leu191Ile	NA	Q6FHX1|Q9HCP9|Q9NTV4|Q9Y5T1	37		.	.	.	.	.	.	.	.	.	.	A	15.16	2.750654	0.49257	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66995	-0.24;-0.24	5.89	0.478	0.16789	GAF (2);	0.135179	0.51477	D	0.000093	T	0.60573	0.2279	L	0.42245	1.32	0.41174	D	0.986184	D;P	0.76494	0.999;0.551	D;B	0.80764	0.994;0.325	T	0.59873	-0.7372	10	0.40728	T	0.16	.	9.4315	0.38612	0.6971:0.0:0.3029:0.0	.	201;191	Q9ULW9;Q9Y233	.;PDE10_HUMAN	I	191;219;201;191;190	ENSP00000355847:L191I;ENSP00000346435:L191I	ENSP00000341187:L201I	L	-	1	2	PDE10A	165766544	1.000000	0.71417	0.774000	0.31636	0.982000	0.71751	1.261000	0.32980	-0.136000	0.11475	0.477000	0.44152	TTA	PDE10A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043031.1		-	ENST00000366882.1	Missense_Mutation	SNP	6 : 165846554 - 165846554 T PAAD-TCGA-US-A776-Tumor-SM-5437B	258	76
PDGFC	56034	broad.mit.edu	37	4	157689020	157689020	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:157689020G>T	ENST00000502773.1	-	5	1316	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000422544.2_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	276					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CGTTTAACCAGGAGACAACCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	156	161			NA	NA	4		NA											NA				157689020		2203	4299	6502	SO:0001583	missense			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431	56034	56034			8801	protein-coding gene	gene with protein product		608452			NA	10858496, 10858548	Standard		NM_016205	NA	Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.826C>A	4.37:g.157689020G>T	ENSP00000422464:p.Leu276Met	NA	B9EGR8|Q4W5M9|Q9UL22	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786502	0.70337	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.48836	2.31;0.81;0.8	5.35	2.69	0.31865	Platelet-derived growth factor (PDGF) (3);	0.000000	0.64402	D	0.000002	T	0.64811	0.2632	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65207	-0.6224	10	0.87932	D	0	-11.8977	8.3211	0.32130	0.2934:0.0:0.7066:0.0	.	121;276	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	M	276;113;121	ENSP00000422464:L276M;ENSP00000442943:L113M;ENSP00000439728:L121M	ENSP00000422464:L276M	L	-	1	2	PDGFC	157908470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.866000	0.48420	0.645000	0.30675	0.655000	0.94253	CTG	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366123.1		-	ENST00000502773.1	Missense_Mutation	SNP	4 : 157689020 - 157689020 T PAAD-TCGA-US-A776-Tumor-SM-5437B	768	42
PFKFB3	5209	broad.mit.edu	37	10	6264820	6264820	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:6264820C>T	ENST00000379775.4	+	11	1416	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000379782.3_Silent_p.S362S|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379789.4_Silent_p.S342S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	362	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GTGCTCAGTCCTACCAGGACC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	39	43			NA	NA	10		NA											NA				6264820		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525	5209	5209			8874	protein-coding gene	gene with protein product		605319			NA	9146922, 10072580	Standard		NM_004566	NA	Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1086C>T	10.37:g.6264820C>T		NA	O43622|O75902|Q5VX19	37	CCDS7078.1																																																																																			PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046647.1		+	ENST00000379775.4	Silent	SNP	10 : 6264820 - 6264820 T PAAD-TCGA-US-A776-Tumor-SM-5437B	161	75
PFKL	5211	broad.mit.edu	37	21	45732983	45732983	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:45732983C>T	ENST00000349048.4	+	5	605	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R231C	NM_002626.4	NP_002617.3	P17858	K6PL_HUMAN	phosphofructokinase, liver	184					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGCCCTCCACCGCATCATGGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	103	112			NA	NA	21		NA											NA				45732983		2203	4300	6503	SO:0001583	missense				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	5211	5211	2.7.1.11		8876	protein-coding gene	gene with protein product		171860			NA		Standard		NR_024108	NA	Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.550C>T	21.37:g.45732983C>T	ENSP00000269848:p.Arg184Cys	NA	Q96A64|Q96IH4|Q9BR91	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299706	0.81136	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80738	-1.41;-1.41	4.77	4.77	0.60923	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92671	0.6150	10	0.87932	D	0	-34.907	11.7811	0.52016	0.1762:0.8238:0.0:0.0	.	184;231	P17858;P17858-2	K6PL_HUMAN;.	C	184;234;231	ENSP00000269848:R184C;ENSP00000384038:R231C	ENSP00000269848:R184C	R	+	1	0	PFKL	44557411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.217000	0.32455	2.200000	0.70718	0.491000	0.48974	CGC	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195805.1		+	ENST00000349048.4	Missense_Mutation	SNP	21 : 45732983 - 45732983 T PAAD-TCGA-US-A776-Tumor-SM-5437B	535	29
PGGT1B	5229	broad.mit.edu	37	5	114598513	114598513	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:114598513G>A	ENST00000419445.1	-	1	56	c.36C>T	c.(34-36)agC>agT	p.S12S	CTC-428G20.6_ENST00000606615.1_RNA|PGGT1B_ENST00000379615.3_Silent_p.S12S	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	12					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTCCCTCACCGCTCCCTGCTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	32			NA	NA	5		NA											NA				114598513		2202	4300	6502	SO:0001819	synonymous_variant				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219	5229	5229			8895	protein-coding gene	gene with protein product		602031			NA	8106351	Standard	NM_005023	NM_005023	NA	Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.36C>T	5.37:g.114598513G>A		NA	Q5MJP9	37	CCDS4116.1																																																																																			PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250855.2		-	ENST00000419445.1	Silent	SNP	5 : 114598513 - 114598513 A PAAD-TCGA-US-A776-Tumor-SM-5437B	210	4
PLD4	122618	broad.mit.edu	37	14	105396428	105396428	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105396428C>T	ENST00000540372.1	+	6	916	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	PLD4_ENST00000392593.4_Missense_Mutation_p.R235W			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	235					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CATGGACTGGCGGTCTCTGAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	14		NA											NA				105396428		2107	4240	6347	SO:0001583	missense				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428	122618	122618			23792	protein-coding gene	gene with protein product			chromosome 14 open reading frame 175	C14orf175	NA		Standard	NM_138790	XM_006720024	NA	Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000540372.1:c.724C>T	14.37:g.105396428C>T	ENSP00000438677:p.Arg242Trp	NA	Q6UWD2	37		.	.	.	.	.	.	.	.	.	.	C	17.78	3.472839	0.63737	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25250	2.22;2.22;1.81	3.87	1.82	0.25136	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62291	-0.6885	10	0.87932	D	0	-0.0397	5.2432	0.15483	0.4031:0.4845:0.0:0.1124	.	242;235	F5H2B5;Q96BZ4	.;PLD4_HUMAN	W	242;235;233	ENSP00000438677:R242W;ENSP00000376372:R235W;ENSP00000451278:R233W	ENSP00000376372:R235W	R	+	1	2	PLD4	104467473	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	1.036000	0.30228	0.735000	0.32537	0.561000	0.74099	CGG	PLD4-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000410295.1		+	ENST00000540372.1	Missense_Mutation	SNP	14 : 105396428 - 105396428 T PAAD-TCGA-US-A776-Tumor-SM-5437B	333	19
PPP1R9B	84687	broad.mit.edu	37	17	48212935	48212935	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48212935C>G	ENST00000501501.2	-	0	2495				PPP1R9B_ENST00000316878.6_Missense_Mutation_p.D793H			Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	NA					cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGGAGCTTGTCCATCTCCTCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	17		NA											NA				48212935		1994	4161	6155	SO:0001623	5_prime_UTR_variant			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819	84687	84687		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9298	protein-coding gene	gene with protein product	spinophilin, Neurabin-2	603325	protein phosphatase 1, regulatory subunit 9B, spinophilin, protein phosphatase 1, regulatory (inhibitor) subunit 9B	PPP1R6, PPP1R9	NA	9275233	Standard	NM_032595	NM_032595	NA	Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000501501.2:c.-1663G>C	17.37:g.48212935C>G		NA	Q8TCR9	37																																																																																				PPP1R9B-001	KNOWN	sequence_error|basic	processed_transcript	NA	protein_coding	OTTHUMT00000366722.2		-	ENST00000501501.2	5'UTR	SNP	17 : 48212935 - 48212935 G PAAD-TCGA-US-A776-Tumor-SM-5437B	39	41
PPRC1	23082	broad.mit.edu	37	10	103907024	103907024	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:103907024C>T	ENST00000278070.2	+	9	4314	c.4275C>T	c.(4273-4275)cgC>cgT	p.R1425R	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.R392R|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCGAGGCCGCAACAGCCGTT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	69	72			NA	NA	10		NA											NA				103907024		2203	4298	6501	SO:0001819	synonymous_variant			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840	23082	23082		RNA binding motif (RRM) containing	30025	protein-coding gene	gene with protein product			peroxisome proliferative activated receptor, gamma, coactivator-related 1		NA	9628581, 11340167	Standard	NM_015062	XM_005269656	NA	Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4275C>T	10.37:g.103907024C>T		NA	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	37	CCDS7529.1																																																																																			PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050021.1		+	ENST00000278070.2	Silent	SNP	10 : 103907024 - 103907024 T PAAD-TCGA-US-A776-Tumor-SM-5437B	494	37
PRDM11	56981	broad.mit.edu	37	11	45246344	45246344	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:45246344C>T	ENST00000424263.2	+	7	1564	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	PRDM11_ENST00000530656.1_Missense_Mutation_p.P474L|PRDM11_ENST00000263765.4_Missense_Mutation_p.P474L|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA	NM_001256695.1|NM_001256696.1	NP_001243624.1|NP_001243625.1	Q9NQV5	PRD11_HUMAN	PR domain containing 11	474										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGAGCCCCCCGTATTGCCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(118;1511 1736 6472 36603 43224)							NA				0													93	102	99			NA	NA	11		NA											NA				45246344		2203	4299	6502	SO:0001583	missense			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485	56981	56981			13996	protein-coding gene	gene with protein product	PR-domain containing protein 11				NA		Standard	NM_020229	NM_001256695	NA	Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000424263.2:c.1319C>T	11.37:g.45246344C>T	ENSP00000394314:p.Pro440Leu	NA	Q8N9F1	37	CCDS58130.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544382	0.65198	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.31769	1.48;1.48;1.52	5.68	5.68	0.88126	.	0.104471	0.43110	D	0.000612	T	0.24275	0.0588	N	0.24115	0.695	0.37913	D	0.931428	B	0.26744	0.158	B	0.24848	0.056	T	0.11641	-1.0579	10	0.87932	D	0	-14.4702	15.2956	0.73906	0.0:0.8606:0.1394:0.0	.	474	Q9NQV5	PRD11_HUMAN	L	474;474;440	ENSP00000263765:P474L;ENSP00000435976:P474L;ENSP00000394314:P440L	ENSP00000263765:P474L	P	+	2	0	PRDM11	45202920	0.957000	0.32711	0.958000	0.39756	0.947000	0.59692	4.313000	0.59160	2.689000	0.91719	0.655000	0.94253	CCC	PRDM11-002	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389930.1		+	ENST00000424263.2	Missense_Mutation	SNP	11 : 45246344 - 45246344 T PAAD-TCGA-US-A776-Tumor-SM-5437B	1041	19
PROM2	150696	broad.mit.edu	37	2	95944852	95944852	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95944852C>T	ENST00000317620.9	+	10	1367	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000542147.1_Missense_Mutation_p.R412C|PROM2_ENST00000403131.2_Missense_Mutation_p.R412C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCAGCCGCCCCTACCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	20	19			NA	NA	2		NA											NA				95944852		2200	4290	6490	SO:0001583	missense			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066	150696	150696			20685	protein-coding gene	gene with protein product					NA	12514187	Standard	NM_144707	NM_001165978	NA	Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1234C>T	2.37:g.95944852C>T	ENSP00000318270:p.Arg412Cys	NA	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595166	0.66219	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.94	4.01	0.46588	.	0.319686	0.26496	N	0.024057	T	0.63988	0.2558	M	0.76574	2.34	0.47698	D	0.999491	D	0.89917	1.0	D	0.65773	0.938	T	0.66578	-0.5888	10	0.59425	D	0.04	-25.1156	11.117	0.48266	0.1839:0.8161:0.0:0.0	.	412	Q8N271	PROM2_HUMAN	C	412	ENSP00000385716:R412C;ENSP00000318520:R412C;ENSP00000318270:R412C;ENSP00000442542:R412C	ENSP00000318270:R412C	R	+	1	0	PROM2	95308579	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.805000	0.47939	2.446000	0.82766	0.609000	0.83330	CGC	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252771.1		+	ENST00000317620.9	Missense_Mutation	SNP	2 : 95944852 - 95944852 T PAAD-TCGA-US-A776-Tumor-SM-5437B	102	23
PRPH2	5961	broad.mit.edu	37	6	42689575	42689575	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	136	140			NA	NA	6		NA											NA				42689575		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619	5961	5961		Tetraspanins	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	retinal degeneration, slow (retinitis pigmentosa 7), retinal degeneration, slow	RP7, RDS	NA	1749427	Standard	NM_000322	NM_000322	NA	Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.498C>T	6.37:g.42689575G>A		NA	Q5TFH5|Q6DK65	37	CCDS4871.1																																																																																			PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040556.1		-	ENST00000230381.5	Silent	SNP	6 : 42689575 - 42689575 A PAAD-TCGA-US-A776-Tumor-SM-5437B	728	6
PRR16	51334	broad.mit.edu	37	5	120022194	120022194	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:120022194T>A	ENST00000379551.2	+	3	993	c.636T>A	c.(634-636)agT>agA	p.S212R	PRR16_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000407149.2_Missense_Mutation_p.S235R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	235	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACTTACACAGTGAACCTGTCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	5		NA											NA				120022194		2203	4300	6503	SO:0001583	missense			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838	51334	51334			29654	protein-coding gene	gene with protein product		615931			NA	15971941	Standard	NM_016644	XM_005272010	NA	Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000379551.2:c.636T>A	5.37:g.120022194T>A	ENSP00000368869:p.Ser212Arg	NA	D3DSZ0|Q8IXY1|Q9NYI5	37	CCDS4127.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672070	0.00758	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.94	-9.87	0.00470	.	0.400671	0.29059	N	0.013275	T	0.29321	0.0730	L	0.44542	1.39	0.21802	N	0.999536	B;B	0.06786	0.001;0.001	B;B	0.12156	0.002;0.007	T	0.20571	-1.0271	9	.	.	.	-0.3315	18.6912	0.91583	0.0:0.1262:0.0786:0.7953	.	235;212	Q569H4;Q569H4-3	PRR16_HUMAN;.	R	235;212;165;165	ENSP00000385118:S235R;ENSP00000368869:S212R;ENSP00000423446:S165R;ENSP00000405491:S165R	.	S	+	3	2	PRR16	120050093	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.104000	0.00294	-4.142000	0.00070	-2.918000	0.00090	AGT	PRR16-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250867.2		+	ENST00000379551.2	Missense_Mutation	SNP	5 : 120022194 - 120022194 A PAAD-TCGA-US-A776-Tumor-SM-5437B	307	19
PTCH2	8643	broad.mit.edu	37	1	45297975	45297975	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:45297975C>T	ENST00000372192.3	-	3	434	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PTCH2_ENST00000447098.2_Missense_Mutation_p.E102K	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	102					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCAGCTTCTCCTTGGTGTAA	0.602		NA							Basal Cell Nevus syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	175	180			NA	NA	1		NA											NA				45297975		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425	8643	8643			9586	protein-coding gene	gene with protein product		603673	patched (Drosophila) homolog 2, patched homolog 2 (Drosophila)		NA	9811851, 9931336	Standard	NM_003738	NM_003738	NA	Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.304G>A	1.37:g.45297975C>T	ENSP00000361266:p.Glu102Lys	NA	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147753	0.57151	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92911	-3.12;-3.13	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000175	D	0.90113	0.6911	L	0.31294	0.92	0.51233	D	0.999915	P	0.51537	0.946	P	0.55161	0.77	D	0.86497	0.1801	10	0.06099	T	0.92	-0.1502	16.5237	0.84324	0.0:1.0:0.0:0.0	.	102	Q9Y6C5	PTC2_HUMAN	K	102	ENSP00000389703:E102K;ENSP00000361266:E102K	ENSP00000361266:E102K	E	-	1	0	PTCH2	45070562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.516000	0.53436	2.425000	0.82216	0.561000	0.74099	GAG	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023428.4		-	ENST00000372192.3	Missense_Mutation	SNP	1 : 45297975 - 45297975 T PAAD-TCGA-US-A776-Tumor-SM-5437B	1317	10
RAD51AP1	10635	broad.mit.edu	37	12	4665646	4665646	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4665646G>C	ENST00000544927.1	+	8	673				RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K283N|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K300N|RAD51AP1_ENST00000321524.7_Intron			Q96B01	R51A1_HUMAN	RAD51 associated protein 1	NA					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CTGAAAGCAAGAAACCTAAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	80			NA	NA	12		NA											NA				4665646		2203	4300	6503	SO:0001627	intron_variant			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247	10635	10635			16956	protein-coding gene	gene with protein product		603070			NA	9396801	Standard	NM_006479	NM_001130862	NA	Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.664-2377G>C	12.37:g.4665646G>C		NA	A8K7D3|O43403|Q7Z779	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.007313|3.007313	0.54361|0.54361	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618	.|T;T;T	.|0.54071	.|1.02;0.59;0.59	4.51|4.51	3.58|3.58	0.41010|0.41010	.|.	.|0.464142	.|0.23125	.|N	.|0.051651	T|T	0.57475|0.57475	0.2056|0.2056	M|M	0.61703|0.61703	1.905|1.905	0.23425|0.23425	N|N	0.997702|0.997702	.|D;P;P;D	.|0.53462	.|0.96;0.728;0.944;0.959	.|P;B;P;P	.|0.52957	.|0.599;0.334;0.714;0.714	T|T	0.52011|0.52011	-0.8632|-0.8632	5|10	.|0.87932	.|D	.|0	-2.0346|-2.0346	7.5909|7.5909	0.28021|0.28021	0.1221:0.0:0.8779:0.0|0.1221:0.0:0.8779:0.0	.|.	.|165;300;300;283	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	Q|N	252|165;300;283	.|ENSP00000439960:K165N;ENSP00000228843:K300N;ENSP00000309479:K283N	.|ENSP00000228843:K300N	E|K	+|+	1|3	0|2	RAD51AP1|RAD51AP1	4535907|4535907	0.982000|0.982000	0.34865|0.34865	0.412000|0.412000	0.26496|0.26496	0.894000|0.894000	0.52154|0.52154	1.452000|1.452000	0.35156|0.35156	1.054000|1.054000	0.40438|0.40438	0.591000|0.591000	0.81541|0.81541	GAA|AAG	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399208.1		+	ENST00000544927.1	Intron	SNP	12 : 4665646 - 4665646 C PAAD-TCGA-US-A776-Tumor-SM-5437B	1413	131
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398		NA						Direct reversal of damage;Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											120	126	124			NA	NA	8		NA											NA				95403999		2203	4300	6503	SO:0001819	synonymous_variant			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275	25788	25788			17228	protein-coding gene	gene with protein product		604289			NA	10362364, 10851248	Standard	NM_012415	NM_012415	NA	Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1647C>T	8.37:g.95403999G>A		NA	Q8N4S5	37	CCDS6262.1																																																																																			RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257806.3		-	ENST00000336148.5	Silent	SNP	8 : 95403999 - 95403999 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1199	9
RADIL	55698	broad.mit.edu	37	7	4876198	4876198	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:4876198C>T	ENST00000399583.3	-	3	761	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	RADIL_ENST00000536091.1_Missense_Mutation_p.A192T|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	192					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTTCCCTTCGCGCGACTCCGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	24	22			NA	NA	7		NA											NA				4876198		1997	4148	6145	SO:0001583	missense			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927	55698	55698			22226	protein-coding gene	gene with protein product		611491			NA	16051602, 17704304	Standard	NM_018059	NM_018059	NA	Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.574G>A	7.37:g.4876198C>T	ENSP00000382492:p.Ala192Thr	NA	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018145	0.54576	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.24538	3.25;1.85	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.75447	2.3	0.43191	D	0.995025	D	0.52996	0.957	B	0.40534	0.332	T	0.20538	-1.0272	10	0.49607	T	0.09	-28.9768	12.2613	0.54652	0.0:0.8293:0.1707:0.0	.	192	Q96JH8	RADIL_HUMAN	T	192;166;192	ENSP00000382492:A192T;ENSP00000442533:A192T	ENSP00000320946:A166T	A	-	1	0	RADIL	4842724	0.997000	0.39634	0.951000	0.38953	0.111000	0.19643	3.783000	0.55409	2.123000	0.65237	0.462000	0.41574	GCG	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323769.2		-	ENST00000399583.3	Missense_Mutation	SNP	7 : 4876198 - 4876198 T PAAD-TCGA-US-A776-Tumor-SM-5437B	236	88
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0													252	239	243			NA	NA	10		NA											NA				43622039		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43622039 - 43622039 T PAAD-TCGA-US-A776-Tumor-SM-5437B	1224	8
RGS6	9628	broad.mit.edu	37	14	72939637	72939637	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:72939637C>T	ENST00000355512.6	+	8	594	c.594C>T	c.(592-594)gcC>gcT	p.A198A	RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000553530.1_Silent_p.A198A|RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000553525.1_Silent_p.A198A|RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000554782.1_Silent_p.A59A|RGS6_ENST00000555571.1_Silent_p.A198A			P49758	RGS6_HUMAN	regulator of G-protein signaling 6	198					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAACGAGCCTTTTGGGATG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(143;1926 2468 21071 48641)							NA				0													143	159	154			NA	NA	14		NA											NA				72939637		2203	4300	6503	SO:0001819	synonymous_variant			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732	9628	9628		Regulators of G-protein signaling	10002	protein-coding gene	gene with protein product		603894	regulator of G-protein signalling 6		NA	10083744, 14734556	Standard		NM_004296	NA	Approved		uc010ttn.2	P49758		ENST00000355512.6:c.594C>T	14.37:g.72939637C>T		NA	O75576|O75577|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	37																																																																																				RGS6-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413036.1		+	ENST00000355512.6	Silent	SNP	14 : 72939637 - 72939637 T PAAD-TCGA-US-A776-Tumor-SM-5437B	1105	55
RNF34	80196	broad.mit.edu	37	12	121867911	121867911	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121867911G>A	ENST00000392464.2	+	7	1207	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	0					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCAAAGGAAAGTGTCGGCTCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	105	105			NA	NA	12		NA											NA				121867911		1915	4122	6037	SO:0001583	missense			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633	80196	80196		RING-type (C3HC4) zinc fingers	17297	protein-coding gene	gene with protein product		608299	ring finger protein 34		NA	12118383	Standard	NM_194271	NM_025126	NA	Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.1138G>A	12.37:g.121867911G>A	ENSP00000376257:p.Val380Met	NA	B7Z933|Q8NG47|Q9H6W8	37		.	.	.	.	.	.	.	.	.	.	G	3.769	-0.048006	0.07407	.	.	ENSG00000170633	ENST00000392464	T	0.37584	1.19	4.62	1.74	0.24563	.	.	.	.	.	T	0.28034	0.0691	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22487	-1.0215	5	.	.	.	.	6.9412	0.24494	0.2921:0.0:0.7079:0.0	.	.	.	.	M	380	ENSP00000376257:V380M	.	V	+	1	0	RNF34	120352294	0.001000	0.12720	0.006000	0.13384	0.692000	0.40212	0.651000	0.24873	0.262000	0.21774	0.655000	0.94253	GTG	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413892.1		+	ENST00000392464.2	Missense_Mutation	SNP	12 : 121867911 - 121867911 A PAAD-TCGA-US-A776-Tumor-SM-5437B	446	18
RP11-385D13.1	0	broad.mit.edu	37	17	15534959	15534959	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:15534959G>T	ENST00000455584.2	-	5	1128	c.1085C>A	c.(1084-1086)cCc>cAc	p.P362H	TRIM16_ENST00000416464.2_Missense_Mutation_p.P232H|TRIM16_ENST00000578237.1_Missense_Mutation_p.P362H|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.P362H|TRIM16_ENST00000577886.1_Missense_Mutation_p.P146H						NA											NA						CCTGGTGCTGGGCTCAGGTTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	96	102			NA	NA	17		NA											NA				15534959		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000455584.2:c.1085C>A	17.37:g.15534959G>T	ENSP00000402644:p.Pro362His	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.83|13.83	2.353404|2.353404	0.41700|0.41700	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708;ENST00000416464|ENST00000455584	T;T|.	0.72835|.	-0.33;-0.69|.	4.61|4.61	4.61|4.61	0.57282|0.57282	B30.2/SPRY domain (1);|.	0.130100|0.130100	0.52532|0.52532	D|D	0.000067|0.000067	T|T	0.80105|0.80105	0.4562|0.4562	M|M	0.88512|0.88512	2.96|2.96	0.44162|0.44162	D|D	0.996964|0.996964	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	D|D	0.83788|0.83788	0.0229|0.0229	10|7	0.59425|0.54805	D|T	0.04|0.06	.|.	15.3149|15.3149	0.74065|0.74065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;362;376|.	B3KP96;O95361;Q59EB2|.	.;TRI16_HUMAN;.|.	H|T	362;232|377	ENSP00000338989:P362H;ENSP00000399918:P232H|.	ENSP00000338989:P362H|ENSP00000402644:P377T	P|P	-|-	2|1	0|0	TRIM16|RP11-385D13.1	15475684|15475684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.466000|6.466000	0.73543|0.73543	2.262000|2.262000	0.75019|0.75019	0.555000|0.555000	0.69702|0.69702	CCC|CCA	RP11-385D13.1-001	NOVEL	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000363271.2		-	ENST00000455584.2	Missense_Mutation	SNP	17 : 15534959 - 15534959 T PAAD-TCGA-US-A776-Tumor-SM-5437B	441	100
RYR1	6261	broad.mit.edu	37	19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:38966037G>A	ENST00000355481.4	+	29	4371	c.4240G>A	c.(4240-4242)Gtg>Atg	p.V1414M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1414M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1414	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCACGACGTGGTGCCTGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	54	44	47		4240,4240	5.1	0.9	19		47	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	21,21	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	1414/5039,1414/5034	38966037	1,13005	2203	4300	6503	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.4240G>A	19.37:g.38966037G>A	ENSP00000347667:p.Val1414Met	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056305	0.36277	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97378	-4.36;-4.36;-4.36	5.12	5.12	0.69794	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000014	D	0.98012	0.9345	M	0.72118	2.19	0.42879	D	0.994168	D;D	0.89917	1.0;0.998	D;P	0.68192	0.956;0.851	D	0.98185	1.0459	10	0.40728	T	0.16	.	17.3403	0.87293	0.0:0.0:1.0:0.0	.	1414;1414	P21817-2;P21817	.;RYR1_HUMAN	M	1414	ENSP00000352608:V1414M;ENSP00000347667:V1414M;ENSP00000354254:V1414M	ENSP00000347667:V1414M	V	+	1	0	RYR1	43657877	1.000000	0.71417	0.894000	0.35097	0.039000	0.13416	5.869000	0.69613	2.388000	0.81334	0.462000	0.41574	GTG	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38966037 - 38966037 A PAAD-TCGA-US-A776-Tumor-SM-5437B	209	39
SALL2	6297	broad.mit.edu	37	14	21993764	21993764	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:21993764G>A	ENST00000327430.3	-	2	392	c.98C>T	c.(97-99)cCc>cTc	p.P33L	SALL2_ENST00000450879.2_Missense_Mutation_p.P31L|SALL2_ENST00000317492.5_Missense_Mutation_p.P33L|SALL2_ENST00000538754.1_Missense_Mutation_p.P31L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	33							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACAGACTTGGGGGTGATCCTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	70	75			NA	NA	14		NA											NA				21993764		2203	4300	6503	SO:0001583	missense			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821	6297	6297		Zinc fingers, C2H2-type	10526	protein-coding gene	gene with protein product		602219	sal (Drosophila)-like 2, sal-like 2 (Drosophila)		NA	8975705	Standard	NM_005407	XM_005267983	NA	Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.98C>T	14.37:g.21993764G>A	ENSP00000333537:p.Pro33Leu	NA	B2RMX6|B9EGK8|Q9Y4G1	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.54|17.54	3.416205|3.416205	0.62511|0.62511	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235|ENST00000546363	T;T;T;T;T|T	0.37058|0.04049	3.68;1.24;1.22;3.65;1.34|3.72	4.01|4.01	2.17|2.17	0.27698|0.27698	.|.	0.000000|0.000000	0.38605|0.38605	N|N	0.001629|0.001629	T|T	0.07143|0.07143	0.0181|0.0181	L|L	0.50333|0.50333	1.59|1.59	0.35240|0.35240	D|D	0.777695|0.777695	B;B;B;D;B;D|.	0.89917|.	0.002;0.002;0.0;1.0;0.004;0.982|.	B;B;B;D;B;P|.	0.87578|.	0.001;0.001;0.001;0.998;0.004;0.731|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|8	0.62326|0.33940	D|T	0.03|0.23	-25.3036|-25.3036	5.8958|5.8958	0.18939|0.18939	0.3358:0.0:0.6641:0.0|0.3358:0.0:0.6641:0.0	.|.	31;31;31;33;31;33|.	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467|.	.;.;.;.;.;SALL2_HUMAN|.	L|S	33;33;31;31;33;31|27	ENSP00000333537:P33L;ENSP00000320536:P33L;ENSP00000445916:P31L;ENSP00000396773:P31L;ENSP00000438493:P31L|ENSP00000440054:P27S	ENSP00000320536:P33L|ENSP00000440054:P27S	P|P	-|-	2|1	0|0	SALL2|SALL2	21063604|21063604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	2.258000|2.258000	0.43249|0.43249	0.375000|0.375000	0.24679|0.24679	-0.259000|-0.259000	0.10710|0.10710	CCC|CCC	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401242.1		-	ENST00000327430.3	Missense_Mutation	SNP	14 : 21993764 - 21993764 A PAAD-TCGA-US-A776-Tumor-SM-5437B	263	4
SERPINE1	5054	broad.mit.edu	37	7	100773787	100773787	+	Silent	SNP	G	G	A	rs6091	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100773787G>A	ENST00000445463.2	+	4	460	c.312G>A	c.(310-312)gcG>gcA	p.A104A	SERPINE1_ENST00000223095.4_Silent_p.A119A			P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	119					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CCACAGACGCGATCTTCGTCC	0.597		NA											G	2	9e-04	NA	NA	2184	0.0017	1	,	,	NA	6e-04	0.0013	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								G	,	2,4404	4.2+/-10.8	0,2,2201	196	178	184		357,312	4.6	1	7	dbSNP_52	184	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	SERPINE1	NM_000602.3,NM_001165413.1	,	0,10,6493	AA,AG,GG	NA	0.093,0.0454,0.0769	,	119/403,104/388	100773787	10,12996	2203	4300	6503	SO:0001819	synonymous_variant			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366	5054	5054		Serine (or cysteine) peptidase inhibitors	8583	protein-coding gene	gene with protein product	plasminogen activator inhibitor, type I	173360	serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	PLANH1, PAI1	NA	3097076, 2891140, 24172014	Standard	NM_000602	NM_000602	NA	Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000445463.2:c.312G>A	7.37:g.100773787G>A		NA		37																																																																																				SERPINE1-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			+	ENST00000445463.2	Silent	SNP	7 : 100773787 - 100773787 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1259	209
SF3B1	23451	broad.mit.edu	37	2	198266548	198266548	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:198266548T>C	ENST00000335508.6	-	16	2379	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	NA					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTATAGTAGTTGGCATATTC	0.323		NA	Mis		myelodysplastic syndrome									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q33.1	23451	splicing factor 3b, subunit 1, 155kDa		L	0													83	90	88			NA	NA	2		NA											NA				198266548		2202	4297	6499	SO:0001583	missense			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	23451	23451			10768	protein-coding gene	gene with protein product		605590	splicing factor 3b, subunit 1, 155kD		NA	9585501	Standard		XM_005246428	NA	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2288A>G	2.37:g.198266548T>C	ENSP00000335321:p.Asn763Ser	NA		37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243402	0.39697	.	.	ENSG00000115524	ENST00000335508	T	0.63255	-0.03	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	N	0.13327	0.33	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.36817	-0.9732	10	0.19147	T	0.46	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	763	O75533	SF3B1_HUMAN	S	763	ENSP00000335321:N763S	ENSP00000335321:N763S	N	-	2	0	SF3B1	197974793	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.980000	0.88113	2.171000	0.68590	0.533000	0.62120	AAC	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335245.2		-	ENST00000335508.6	Missense_Mutation	SNP	2 : 198266548 - 198266548 C PAAD-TCGA-US-A776-Tumor-SM-5437B	480	161
SIGLEC1	6614	broad.mit.edu	37	20	3682127	3682127	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3682127G>A	ENST00000344754.4	-	6	1389	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	464	Ig-like C2-type 4.		R -> H (in dbSNP:rs34924243).		cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCACTGAAGCGTGGGCTGTGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	103	78	87		1390	4.7	1	20		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIGLEC1	NM_023068.3	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	464/1710	3682127	1,13005	2203	4300	6503	SO:0001583	missense			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	6614	6614		CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11127	protein-coding gene	gene with protein product		600751	sialoadhesin	SN	NA	8530048	Standard	NM_023068	XM_006723610	NA	Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1390C>T	20.37:g.3682127G>A	ENSP00000341141:p.Arg464Cys	NA	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365905	0.61513	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.80214	-1.35;-1.35	5.69	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000902	D	0.90232	0.6946	M	0.90309	3.105	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.90798	0.4692	10	0.59425	D	0.04	.	11.0231	0.47730	0.0:0.0:0.7041:0.2959	.	464;464	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	464	ENSP00000341141:R464C;ENSP00000202578:R464C	ENSP00000202578:R464C	R	-	1	0	SIGLEC1	3630127	0.977000	0.34250	0.968000	0.41197	0.533000	0.34776	1.794000	0.38774	2.676000	0.91093	0.655000	0.94253	CGC	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077761.2		-	ENST00000344754.4	Missense_Mutation	SNP	20 : 3682127 - 3682127 A PAAD-TCGA-US-A776-Tumor-SM-5437B	465	19
SIGLECL1	284369	broad.mit.edu	37	19	51767330	51767330	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51767330C>A	ENST00000316401.7	+	2	385	c.4C>A	c.(4-6)Ctt>Att	p.L2I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.L2I	NM_173635.1	NP_775906.1			SIGLEC family like 1	NA											NA						GGAAGTGATGCTTCCACTGCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	125	135			NA	NA	19		NA											NA				51767330		2203	4300	6503	SO:0001583	missense			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213	284369	284369			26856	protein-coding gene	gene with protein product			chromosome 19 open reading frame 75, sialic acid binding Ig-like lectin 23, pseudogene, sialic acid binding Ig-like lectin, pseudogene 7	C19orf75, SIGLEC23P, SIGLECP7	NA		Standard	NM_173635	NM_173635	NA	Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.4C>A	19.37:g.51767330C>A	ENSP00000321249:p.Leu2Ile	NA		37	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	C	8.228	0.803908	0.16467	.	.	ENSG00000179213	ENST00000316401	T	0.36157	1.27	2.75	0.38	0.16222	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	P;B	0.36683	0.565;0.313	B;B	0.33799	0.17;0.105	T	0.13335	-1.0513	9	0.38643	T	0.18	-6.1299	4.9206	0.13867	0.2472:0.5118:0.2409:0.0	.	2;2	B7ZLS6;Q8N7X8	.;CS075_HUMAN	I	2	ENSP00000321249:L2I	ENSP00000321249:L2I	L	+	1	0	C19orf75	56459142	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.661000	0.05311	0.165000	0.19558	0.650000	0.86243	CTT	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464161.2		+	ENST00000316401.7	Missense_Mutation	SNP	19 : 51767330 - 51767330 A PAAD-TCGA-US-A776-Tumor-SM-5437B	600	38
SLC4A11	83959	broad.mit.edu	37	20	3214843	3214843	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3214843G>A	ENST00000380059.3	-	5	639	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SLC4A11_ENST00000380056.3_Missense_Mutation_p.R153W|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R137W	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	153					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGCATGGTCCGCAGCACGTTA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(190;922 2139 10266 10292 38692)							NA				0													129	119	122			NA	NA	20		NA											NA				3214843		2203	4300	6503	SO:0001583	missense			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836	83959	83959		Solute carriers	16438	protein-coding gene	gene with protein product		610206	corneal endothelial dystrophy 2 (autosomal recessive), solute carrier family 4, sodium bicarbonate transporter-like, member 11, corneal dystrophy and perceptive deafness 1	CHED2, CDPD1	NA	10843999, 11302728, 16767101	Standard		NM_001174089	NA	Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380059.3:c.538C>T	20.37:g.3214843G>A	ENSP00000369399:p.Arg180Trp	NA	Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	37	CCDS54445.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315762	0.40996	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.06	3.08	0.35506	Phosphotransferase/anion transporter (1);	0.291763	0.33040	N	0.005342	D	0.84415	0.5467	L	0.60455	1.87	0.32057	N	0.59625	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62014	0.897;0.792;0.792	D	0.85438	0.1153	10	0.66056	D	0.02	.	11.0562	0.47920	0.1383:0.0:0.8617:0.0	.	137;180;153	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	W	180;153;137;137	ENSP00000369399:R180W;ENSP00000369396:R153W;ENSP00000441370:R137W;ENSP00000404271:R137W	ENSP00000369396:R153W	R	-	1	2	SLC4A11	3162843	0.964000	0.33143	0.996000	0.52242	0.142000	0.21351	3.096000	0.50243	2.338000	0.79540	0.655000	0.94253	CGG	SLC4A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077727.2		-	ENST00000380059.3	Missense_Mutation	SNP	20 : 3214843 - 3214843 A PAAD-TCGA-US-A776-Tumor-SM-5437B	692	6
SLTM	79811	broad.mit.edu	37	15	59179218	59179218	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:59179218C>T	ENST00000380516.2	-	19	2878	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	931					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCTCCCTCTCTGCTCCCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	85	89			NA	NA	15		NA											NA				59179218		2192	4292	6484	SO:0001583	missense			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776	79811	79811		RNA binding motif (RRM) containing	20709	protein-coding gene	gene with protein product					NA		Standard	NM_024755	XR_243128	NA	Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2791G>A	15.37:g.59179218C>T	ENSP00000369887:p.Glu931Lys	NA	B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	37	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621572	0.87460	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.15718	2.4	5.9	5.9	0.94986	.	0.099394	0.43579	D	0.000549	T	0.33440	0.0863	L	0.47716	1.5	0.46701	D	0.999163	D;D	0.67145	0.987;0.996	P;P	0.58928	0.713;0.848	T	0.00544	-1.1679	10	0.62326	D	0.03	.	18.4626	0.90745	0.0:1.0:0.0:0.0	.	931;500	Q9NWH9;A8K5V8	SLTM_HUMAN;.	K	931;497;500	ENSP00000369887:E931K	ENSP00000369887:E931K	E	-	1	0	SLTM	56966510	1.000000	0.71417	0.723000	0.30687	0.606000	0.37113	5.686000	0.68211	2.786000	0.95864	0.563000	0.77884	GAG	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157124.1		-	ENST00000380516.2	Missense_Mutation	SNP	15 : 59179218 - 59179218 T PAAD-TCGA-US-A776-Tumor-SM-5437B	583	28
SMCHD1	23347	broad.mit.edu	37	18	2722606	2722606	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:2722606G>A	ENST00000320876.6	+	20	2886	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	850					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTTCAGGATGAATTTGGTCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	177	181			NA	NA	18		NA											NA				2722606		1844	4083	5927	SO:0001583	missense			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596	23347	23347			29090	protein-coding gene	gene with protein product		614982			NA	9734811	Standard		NM_015295	NA	Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2548G>A	18.37:g.2722606G>A	ENSP00000326603:p.Glu850Lys	NA	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967778	0.92855	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.36	5.36	0.76844	.	0.191648	0.45606	D	0.000346	T	0.35189	0.0923	L	0.29908	0.895	0.38754	D	0.954179	D	0.60575	0.988	P	0.54544	0.755	T	0.20739	-1.0266	10	0.87932	D	0	-26.6941	19.4611	0.94918	0.0:0.0:1.0:0.0	.	850	A6NHR9	SMHD1_HUMAN	K	850	ENSP00000326603:E850K;ENSP00000261598:E850K	ENSP00000261598:E850K	E	+	1	0	SMCHD1	2712606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.242000	0.65389	2.657000	0.90304	0.655000	0.94253	GAA	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441082.2		+	ENST00000320876.6	Missense_Mutation	SNP	18 : 2722606 - 2722606 A PAAD-TCGA-US-A776-Tumor-SM-5437B	2699	147
SPTA1	6708	broad.mit.edu	37	1	158618342	158618342	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:158618342C>T	ENST00000368147.4	-	26	3851	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCCTCATGCCGTCGCTGAAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	1,3897		0,1,1948	118	119	119		3671	3.2	1	1		119	0,8256		0,0,4128	no	missense	SPTA1	NM_003126.2	43	0,1,6076	TT,TC,CC	NA	0.0,0.0257,0.0082	benign	1224/2420	158618342	1,12153	1949	4128	6077	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3671G>A	1.37:g.158618342C>T	ENSP00000357129:p.Arg1224Gln	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696860	0.48202	2.57E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49139	0.79;0.79	5.5	3.17	0.36434	.	0.307452	0.17970	N	0.155920	T	0.11153	0.0272	N	0.12422	0.21	0.24601	N	0.99378	B	0.02656	0.0	B	0.08055	0.003	T	0.22730	-1.0208	10	0.26408	T	0.33	.	9.1642	0.37041	0.0:0.1701:0.0:0.8299	.	1224	P02549	SPTA1_HUMAN	Q	1224	ENSP00000357130:R1224Q;ENSP00000357129:R1224Q	ENSP00000357129:R1224Q	R	-	2	0	SPTA1	156884966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.500000	0.60387	1.111000	0.41721	-0.238000	0.12139	CGG	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158618342 - 158618342 T PAAD-TCGA-US-A776-Tumor-SM-5437B	259	224
STEAP4	79689	broad.mit.edu	37	7	87912452	87912452	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:87912452T>A	ENST00000380079.4	-	3	589	c.488A>T	c.(487-489)aAg>aTg	p.K163M	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	163					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CACTCTTTGCTTGGCTTTGCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	78			NA	NA	7		NA											NA				87912452		1897	4119	6016	SO:0001583	missense			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954	79689	79689			21923	protein-coding gene	gene with protein product		611098	tumor necrosis factor, alpha-induced protein 9	TNFAIP9	NA	11443137, 15897894	Standard	NM_024636	NM_024636	NA	Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.488A>T	7.37:g.87912452T>A	ENSP00000369419:p.Lys163Met	NA	Q658Q9|Q687X4|Q8WWB0|Q9H5R1	37	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332548	0.60853	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.19394	2.15;2.15	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	H	0.97874	4.095	0.48975	D	0.999738	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74025	-0.3797	10	0.72032	D	0.01	-10.2817	10.7574	0.46245	0.0:0.0705:0.0:0.9295	.	163;163	C9JS50;Q687X5	.;STEA4_HUMAN	M	163	ENSP00000369419:K163M;ENSP00000394399:K163M	ENSP00000369419:K163M	K	-	2	0	STEAP4	87750388	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	6.292000	0.72725	2.289000	0.77006	0.482000	0.46254	AAG	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332712.4		-	ENST00000380079.4	Missense_Mutation	SNP	7 : 87912452 - 87912452 A PAAD-TCGA-US-A776-Tumor-SM-5437B	444	233
STOX1	219736	broad.mit.edu	37	10	70644582	70644582	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:70644582G>A	ENST00000298596.6	+	3	1113	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000421961.2_Missense_Mutation_p.V234I	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	344						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAATGGCCCGTCCGAGATGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	101	102			NA	NA	10		NA											NA				70644582		1902	4124	6026	SO:0001583	missense			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730	219736	219736			23508	protein-coding gene	gene with protein product		609397	chromosome 10 open reading frame 24	C10orf24	NA		Standard	NM_152709	NM_152709	NA	Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1030G>A	10.37:g.70644582G>A	ENSP00000298596:p.Val344Ile	NA	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121909	0.94429	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.80304	-1.36;-1.36;-1.04	6.08	6.08	0.98989	.	0.000000	0.64402	U	0.000003	D	0.90577	0.7046	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90109	0.4190	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	344	Q6ZVD7	STOX1_HUMAN	I	344;344;234	ENSP00000382121:V344I;ENSP00000298596:V344I;ENSP00000394509:V234I	ENSP00000298596:V344I	V	+	1	0	STOX1	70314588	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.909000	0.87444	2.894000	0.99253	0.591000	0.81541	GTC	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276849.3		+	ENST00000298596.6	Missense_Mutation	SNP	10 : 70644582 - 70644582 A PAAD-TCGA-US-A776-Tumor-SM-5437B	407	5
SURF4	6836	broad.mit.edu	37	9	136230524	136230524	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:136230524A>T	ENST00000371989.3	-	6	784	c.655T>A	c.(655-657)Ttc>Atc	p.F219I	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	219						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		AAGGCGTTGAAATATACGTTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	94	97			NA	NA	9		NA											NA				136230524		2203	4300	6503	SO:0001583	missense				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248	6836	6836			11476	protein-coding gene	gene with protein product	surfeit locus protein 4, surface 4 integral membrane protein	185660			NA	8499913, 7540914	Standard	NM_033161	NM_033161	NA	Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.655T>A	9.37:g.136230524A>T	ENSP00000361057:p.Phe219Ile	NA	O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	37	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.979769	0.53827	.	.	ENSG00000148248	ENST00000371989;ENST00000541390	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.41710	1.295	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.008	T	0.47636	-0.9102	9	0.22706	T	0.39	-28.2418	14.2494	0.66009	1.0:0.0:0.0:0.0	.	210;219	B7Z7A8;O15260	.;SURF4_HUMAN	I	219;210	.	ENSP00000361057:F219I	F	-	1	0	SURF4	135220345	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	6.920000	0.75799	1.962000	0.57031	0.383000	0.25322	TTC	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054886.1		-	ENST00000371989.3	Missense_Mutation	SNP	9 : 136230524 - 136230524 T PAAD-TCGA-US-A776-Tumor-SM-5437B	273	129
SVEP1	79987	broad.mit.edu	37	9	113169444	113169444	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:113169444C>T	ENST00000374469.1	-	38	8630	c.8367G>A	c.(8365-8367)agG>agA	p.R2789R	SVEP1_ENST00000297826.5_Silent_p.R738R|SVEP1_ENST00000401783.2_Silent_p.R2812R			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2812	Sushi 23.				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						GGCATGTTCTCCTCTCAGTGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4120		0,0,2060	146	143	144		8436	1.6	0.4	9		144	1,8393		0,1,4196	no	coding-synonymous	SVEP1	NM_153366.3		0,1,6256	TT,TC,CC	NA	0.0119,0.0,0.0080		2812/3572	113169444	1,12513	2060	4197	6257	SO:0001819	synonymous_variant			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.8367G>A	9.37:g.113169444C>T		NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37																																																																																				SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Silent	SNP	9 : 113169444 - 113169444 T PAAD-TCGA-US-A776-Tumor-SM-5437B	717	9
SYT3	84258	broad.mit.edu	37	19	51135878	51135878	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135878G>A	ENST00000338916.4	-	2	972	c.339C>T	c.(337-339)ggC>ggT	p.G113G	SYT3_ENST00000544769.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000593901.1_Silent_p.G113G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	113						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGTGGTGCCCGCCTCCGCCTA	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	19		NA											NA				51135878		2199	4292	6491	SO:0001819	synonymous_variant			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023	84258	84258		Synaptotagmins	11511	protein-coding gene	gene with protein product		600327			NA	7749232	Standard	NM_032298	NM_032298	NA	Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.339C>T	19.37:g.51135878G>A		NA	Q8N5Z1|Q8N640	37	CCDS12798.1																																																																																			SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464910.1		-	ENST00000338916.4	Silent	SNP	19 : 51135878 - 51135878 A PAAD-TCGA-US-A776-Tumor-SM-5437B	225	12
SYT3	84258	broad.mit.edu	37	19	51135733	51135733	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135733A>C	ENST00000338916.4	-	2	1117	c.484T>G	c.(484-486)Ttg>Gtg	p.L162V	SYT3_ENST00000544769.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000593901.1_Missense_Mutation_p.L162V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	162						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCCATGTCCAAGTAGGAGGGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	25	25			NA	NA	19		NA											NA				51135733		2202	4299	6501	SO:0001583	missense			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023	84258	84258		Synaptotagmins	11511	protein-coding gene	gene with protein product		600327			NA	7749232	Standard	NM_032298	NM_032298	NA	Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.484T>G	19.37:g.51135733A>C	ENSP00000340914:p.Leu162Val	NA	Q8N5Z1|Q8N640	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884129	0.51908	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60299	0.2;0.2	4.59	-1.9	0.07665	.	0.162709	0.28268	U	0.015977	T	0.57021	0.2025	L	0.29908	0.895	0.48632	D	0.999683	D	0.63880	0.993	D	0.67548	0.952	T	0.52155	-0.8613	10	0.32370	T	0.25	.	11.5224	0.50560	0.4141:0.0:0.5859:0.0	.	162	Q9BQG1	SYT3_HUMAN	V	162	ENSP00000340914:L162V;ENSP00000438883:L162V	ENSP00000340914:L162V	L	-	1	2	SYT3	55827545	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.388000	0.34442	-0.290000	0.09025	0.460000	0.39030	TTG	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464910.1		-	ENST00000338916.4	Missense_Mutation	SNP	19 : 51135733 - 51135733 C PAAD-TCGA-US-A776-Tumor-SM-5437B	300	82
TAF1L	138474	broad.mit.edu	37	9	32635334	32635334	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:32635334C>T	ENST00000242310.4	-	1	333	c.244G>A	c.(244-246)Gca>Aca	p.A82T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	82					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCATTTGCCGTGAGTTCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	159	160			NA	NA	9		NA											NA				32635334		2203	4300	6503	SO:0001583	missense			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728	138474	138474			18056	protein-coding gene	gene with protein product		607798	TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa		NA	12217962	Standard		NM_153809	NA	Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.244G>A	9.37:g.32635334C>T	ENSP00000418379:p.Ala82Thr	NA	Q0VG57	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807570	0.50421	.	.	ENSG00000122728	ENST00000242310	T	0.08458	3.09	1.04	1.04	0.20106	TAFII-230 TBP-binding (2);	0.117826	0.64402	D	0.000020	T	0.06416	0.0165	L	0.38531	1.155	0.45806	D	0.998682	B	0.27765	0.188	B	0.32928	0.155	T	0.36187	-0.9758	10	0.15499	T	0.54	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	82	Q8IZX4	TAF1L_HUMAN	T	82	ENSP00000418379:A82T	ENSP00000418379:A82T	A	-	1	0	TAF1L	32625334	1.000000	0.71417	0.753000	0.31225	0.120000	0.20174	4.633000	0.61318	0.507000	0.28148	0.195000	0.17529	GCA	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052012.2		-	ENST00000242310.4	Missense_Mutation	SNP	9 : 32635334 - 32635334 T PAAD-TCGA-US-A776-Tumor-SM-5437B	778	6
TAF7L	54457	broad.mit.edu	37	X	100547881	100547881	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:100547881G>A	ENST00000372907.3	-	1	164	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	51					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGCCTTCGTCGCCAGCAATGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(104;431 1530 3210 15406 18594)							NA				0								G		0,3835		0,0,0,1632,571	147	143	144		153	-5.8	0	X		144	3,6725		0,2,1,2426,1871	no	coding-synonymous	TAF7L	NM_024885.3		0,2,1,4058,2442	AA,AG,A,GG,G	NA	0.0446,0.0,0.0284		51/463	100547881	3,10560	2203	4300	6503	SO:0001819	synonymous_variant			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387	54457	54457			11548	protein-coding gene	gene with protein product	cancer/testis antigen 40	300314	TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q	TAF2Q	NA	11279525	Standard		NM_024885	NA	Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.153C>T	X.37:g.100547881G>A		NA	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	37	CCDS35347.1																																																																																			TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057526.2		-	ENST00000372907.3	Silent	SNP	X : 100547881 - 100547881 A PAAD-TCGA-US-A776-Tumor-SM-5437B	469	201
TAS1R1	80835	broad.mit.edu	37	1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:6631015C>T	ENST00000333172.6	+	2	431	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W|TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	80					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0								C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	124	128		238,238	1.7	0.9	1		128	0,8600		0,0,4300	no	missense,missense	TAS1R1	NM_138697.3,NM_177540.2	101,101	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/842,80/588	6631015	1,13005	2203	4300	6503	SO:0001583	missense				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662	NA	80835		Taste receptors / Type 1, GPCR / Unclassified : Taste receptors	14448	protein-coding gene	gene with protein product		606225	G protein-coupled receptor 70	GPR70	NA		Standard		NM_138697	NA	Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.238C>T	1.37:g.6631015C>T	ENSP00000331867:p.Arg80Trp	NA	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	37	CCDS81.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.31	2.496650	0.44352	2.27E-4	0.0	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136	D;D;D	0.83992	-1.79;-1.79;-1.79	5.08	1.71	0.24356	Extracellular ligand-binding receptor (1);	0.129993	0.49916	D	0.000139	D	0.90546	0.7037	M	0.85041	2.73	0.36559	D	0.872319	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.91635	0.999;0.992;0.897;0.999	D	0.92403	0.5931	10	0.66056	D	0.02	.	12.478	0.55825	0.5223:0.4777:0.0:0.0	.	80;80;80;80	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	W	80;80;2;80	ENSP00000331867:R80W;ENSP00000327705:R80W;ENSP00000312558:R80W	ENSP00000327705:R80W	R	+	1	2	TAS1R1	6553602	0.584000	0.26766	0.906000	0.35671	0.335000	0.28730	0.314000	0.19432	0.497000	0.27926	-0.158000	0.13435	CGG	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000004211.1		+	ENST00000333172.6	Missense_Mutation	SNP	1 : 6631015 - 6631015 T PAAD-TCGA-US-A776-Tumor-SM-5437B	486	5
TAX1BP1	8887	broad.mit.edu	37	7	27868361	27868361	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:27868361C>T	ENST00000396319.2	+	17	2371	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000409980.1_Silent_p.S785S|TAX1BP1_ENST00000433216.2_Silent_p.S562S|TAX1BP1_ENST00000543117.1_Silent_p.S719S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	761					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.S761S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CGATGTGCAGCGAGCAGTTCC	0.418		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)											150	140	143			NA	NA	7		NA											NA				27868361		2203	4300	6503	SO:0001819	synonymous_variant			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052	8887	8887			11575	protein-coding gene	gene with protein product		605326			NA	10435631	Standard	NM_006024	NM_006024	NA	Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2283C>T	7.37:g.27868361C>T		NA	O60398|O95770|Q13311|Q9BQG5|Q9UI88	37	CCDS5415.1																																																																																			TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214142.1		+	ENST00000396319.2	Silent	SNP	7 : 27868361 - 27868361 T PAAD-TCGA-US-A776-Tumor-SM-5437B	629	12
TBCC	6903	broad.mit.edu	37	6	42713174	42713174	+	Missense_Mutation	SNP	T	T	C	rs147066602	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42713174T>C	ENST00000372876.1	-	1	660	c.638A>G	c.(637-639)aAc>aGc	p.N213S	TBCC_ENST00000244625.2_Missense_Mutation_p.N213S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	213	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GACCGTGCAGTTGCTCAGTTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	SER/ASN	6,4400	11.4+/-27.6	0,6,2197	62	61	61		638	2.8	0.3	6	dbSNP_134	61	0,8600		0,0,4300	yes	missense	TBCC	NM_003192.2	46	0,6,6497	CC,CT,TT	NA	0.0,0.1362,0.0461	benign	213/347	42713174	6,13000	2203	4300	6503	SO:0001583	missense			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659	6903	6903			11580	protein-coding gene	gene with protein product		602971	tubulin-specific chaperone c		NA	8706133, 11847227	Standard	NM_003192	NM_003192	NA	Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.638A>G	6.37:g.42713174T>C	ENSP00000361967:p.Asn213Ser	NA	Q53Y43|Q5T787	37	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557018	0.27827	0.001362	0.0	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.86865	-2.18;-2.18	5.21	2.75	0.32379	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.563969	0.19333	N	0.116844	T	0.72187	0.3429	M	0.65498	2.005	0.34424	D	0.697741	B	0.09022	0.002	B	0.17098	0.017	T	0.60362	-0.7278	10	0.35671	T	0.21	-9.0269	4.8275	0.13423	0.0:0.2054:0.1591:0.6355	.	213	Q15814	TBCC_HUMAN	S	213	ENSP00000361967:N213S;ENSP00000244625:N213S	ENSP00000244625:N213S	N	-	2	0	TBCC	42821152	0.996000	0.38824	0.273000	0.24645	0.604000	0.37047	2.556000	0.45862	0.365000	0.24400	0.383000	0.25322	AAC	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040559.1		-	ENST00000372876.1	Missense_Mutation	SNP	6 : 42713174 - 42713174 C PAAD-TCGA-US-A776-Tumor-SM-5437B	206	5
TBKBP1	9755	broad.mit.edu	37	17	45776015	45776015	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45776015C>T	ENST00000361722.3	+	4	1357	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	170					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCAGCAGCTGCGGCAACAGCA	0.637		NA									OREG0024498	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													27	30	29			NA	NA	17		NA											NA				45776015		1999	4172	6171	SO:0001583	missense			AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933	9755	9755			30140	protein-coding gene	gene with protein product		608476			NA	14743216, 19481056	Standard	NM_014726	NM_014726	NA	Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.508C>T	17.37:g.45776015C>T	ENSP00000354777:p.Arg170Trp	934	B2RZG6|O94873|Q14DW3	37	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211562	0.39102	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.199024	0.40818	N	0.001001	T	0.35480	0.0933	N	0.14661	0.345	0.40791	D	0.983258	D	0.53312	0.959	B	0.44108	0.441	T	0.38672	-0.9650	10	0.87932	D	0	-9.2625	13.9827	0.64315	0.1522:0.8478:0.0:0.0	.	170	A7MCY6	TBKB1_HUMAN	W	170	ENSP00000354777:R170W;ENSP00000446365:R170W	ENSP00000354777:R170W	R	+	1	2	TBKBP1	43131014	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.455000	0.44988	2.642000	0.89623	0.650000	0.86243	CGG	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441363.1		+	ENST00000361722.3	Missense_Mutation	SNP	17 : 45776015 - 45776015 T PAAD-TCGA-US-A776-Tumor-SM-5437B	54	4
TECTA	7007	broad.mit.edu	37	11	121031073	121031073	+	Missense_Mutation	SNP	C	C	T	rs143546623		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:121031073C>T	ENST00000392793.1	+	15	5190	c.4919C>T	c.(4918-4920)cCg>cTg	p.P1640L	TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L			O75443	TECTA_HUMAN	tectorin alpha	1640	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGAGGGAAGCCGGTGGTAAGC	0.542		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9135	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	LEU/PRO	0,4406		0,0,2203	149	144	146		4919	4.8	1	11	dbSNP_134	146	1,8597	1.2+/-3.3	0,1,4298	no	missense	TECTA	NM_005422.2	98	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	1640/2156	121031073	1,13003	2203	4299	6502	SO:0001583	missense			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4919C>T	11.37:g.121031073C>T	ENSP00000376543:p.Pro1640Leu	NA		37	CCDS8434.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.80	2.940023	0.52972	0.0	1.16E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.34275	1.37;1.37	4.77	4.77	0.60923	von Willebrand factor, type D domain (1);	0.067003	0.64402	D	0.000010	T	0.21307	0.0513	N	0.08118	0	0.80722	D	1	D	0.59357	0.985	B	0.43331	0.416	T	0.05835	-1.0861	10	0.09084	T	0.74	.	17.9956	0.89182	0.0:1.0:0.0:0.0	.	1640	O75443	TECTA_HUMAN	L	1640	ENSP00000376543:P1640L;ENSP00000264037:P1640L	ENSP00000264037:P1640L	P	+	2	0	TECTA	120536283	1.000000	0.71417	0.955000	0.39395	0.987000	0.75469	5.902000	0.69869	2.461000	0.83175	0.655000	0.94253	CCG	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Missense_Mutation	SNP	11 : 121031073 - 121031073 T PAAD-TCGA-US-A776-Tumor-SM-5437B	586	8
TEX101	83639	broad.mit.edu	37	19	43922332	43922332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43922332C>A	ENST00000602198.1	+	8	1029	c.587C>A	c.(586-588)tCg>tAg	p.S196*	TEX101_ENST00000598265.1_Nonsense_Mutation_p.S178*|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	178						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGCATTGAGTCGTCTGTGGAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	90	92			NA	NA	19		NA											NA				43922332		2203	4300	6503	SO:0001587	stop_gained			AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126	83639	83639			30722	protein-coding gene	gene with protein product	cancer/testis antigen 131, spermatogenesis associated 44	612665	testis expressed sequence 101		NA	16388701, 16516155	Standard	NM_031451	NM_031451	NA	Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000602198.1:c.587C>A	19.37:g.43922332C>A	ENSP00000472308:p.Ser196*	NA	Q7L5R2|Q9BPY7	37	CCDS12619.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252496	0.39797	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	.	.	.	4.28	3.25	0.37280	.	0.879578	0.09434	N	0.802755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9191	8.0831	0.30756	0.0:0.8919:0.0:0.1081	.	.	.	.	X	196;191	.	ENSP00000253435:S196X	S	+	2	0	TEX101	48614172	0.001000	0.12720	0.002000	0.10522	0.037000	0.13140	1.237000	0.32695	1.391000	0.46566	0.563000	0.77884	TCG	TEX101-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463173.1		+	ENST00000602198.1	Nonsense_Mutation	SNP	19 : 43922332 - 43922332 A PAAD-TCGA-US-A776-Tumor-SM-5437B	605	26
TGFB2	7042	broad.mit.edu	37	1	218609475	218609475	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:218609475G>A	ENST00000366929.4	+	6	1469	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.A306A	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTTGGATGCGGCCTATTGCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	1		NA											NA				218609475		2203	4300	6503	SO:0001819	synonymous_variant			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969	7042	7042		Endogenous ligands	11768	protein-coding gene	gene with protein product	prepro-transforming growth factor beta-2	190220			NA		Standard	NM_003238	NM_003238	NA	Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366929.4:c.1002G>A	1.37:g.218609475G>A		NA	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	37	CCDS44318.1																																																																																			TGFB2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095360.2		+	ENST00000366929.4	Silent	SNP	1 : 218609475 - 218609475 A PAAD-TCGA-US-A776-Tumor-SM-5437B	398	17
TIGD5	84948	broad.mit.edu	37	8	144681830	144681830	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:144681830C>T	ENST00000504548.2	+	1	1757	c.1757C>T	c.(1756-1758)cCg>cTg	p.P586L	TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	586					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCTCAGTGCCGACTGCCGGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	8		NA											NA				144681830		2174	4283	6457	SO:0001583	missense			AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886	84948	84948			18336	protein-coding gene	gene with protein product					NA		Standard	NM_032862	NM_032862	NA	Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1757C>T	8.37:g.144681830C>T	ENSP00000421489:p.Pro586Leu	NA		37	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391218	0.42410	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.51071	0.72;0.76	4.98	4.98	0.66077	.	0.000000	0.45867	U	0.000334	T	0.54240	0.1846	L	0.29908	0.895	0.49130	D	0.999754	D	0.89917	1.0	D	0.87578	0.998	T	0.43637	-0.9379	10	0.08837	T	0.75	.	17.2517	0.87044	0.0:1.0:0.0:0.0	.	537	Q53EQ6	TIGD5_HUMAN	L	586;537	ENSP00000421489:P586L;ENSP00000315906:P537L	ENSP00000315906:P537L	P	+	2	0	TIGD5	144752973	1.000000	0.71417	0.317000	0.25265	0.108000	0.19459	5.792000	0.69052	2.301000	0.77427	0.655000	0.94253	CCG	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368269.1		+	ENST00000504548.2	Missense_Mutation	SNP	8 : 144681830 - 144681830 T PAAD-TCGA-US-A776-Tumor-SM-5437B	135	41
TM6SF2	53345	broad.mit.edu	37	19	19381000	19381000	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:19381000G>A	ENST00000389363.4	-	4	455	c.383C>T	c.(382-384)gCc>gTc	p.A128V	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'UTR	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	128						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GATGGCGCCGGCCATGGCCAG	0.642		NA											G	1	5e-04	NA	NA	2184	NA	0.9992	,	,	NA	4e-04	0.0013	NA	NA	9e-04	0.5861	EXOME	NA	NA	6e-04	SNP								NA				0													41	44	43			NA	NA	19		NA											NA				19381000		2069	4207	6276	SO:0001583	missense			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05					53345	53345			11861	protein-coding gene	gene with protein product		606563			NA	11124529	Standard	NM_203510	NM_001001524	NA	Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.383C>T	19.37:g.19381000G>A	ENSP00000374014:p.Ala128Val	NA	Q0IJ64	37	CCDS42528.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.00|12.00	1.807588|1.807588	0.31961|0.31961	.|.	.|.	ENSG00000213996|ENSG00000213996	ENST00000389363;ENST00000269990|ENST00000431465	T|.	0.16897|.	2.31|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	1.234380|.	0.06107|.	U|.	0.666399|.	T|T	0.44540|0.44540	0.1298|0.1298	N|N	0.20530|0.20530	0.585|0.585	0.36402|0.36402	D|D	0.863169|0.863169	B|.	0.22800|.	0.075|.	B|.	0.17098|.	0.017|.	T|T	0.56854|0.56854	-0.7910|-0.7910	10|6	0.02654|0.87932	T|D	1|0	-2.6873|-2.6873	8.9715|8.9715	0.35910|0.35910	0.1014:0.0:0.8986:0.0|0.1014:0.0:0.8986:0.0	.|.	128|.	Q9BZW4|.	TM6S2_HUMAN|.	V|S	128|151	ENSP00000374014:A128V|.	ENSP00000269990:A128V|ENSP00000391180:P151S	A|P	-|-	2|1	0|0	TM6SF2|TM6SF2	19242000|19242000	0.998000|0.998000	0.40836|0.40836	0.912000|0.912000	0.35992|0.35992	0.768000|0.768000	0.43524|0.43524	4.136000|4.136000	0.58004|0.58004	2.196000|2.196000	0.70406|0.70406	0.505000|0.505000	0.49811|0.49811	GCC|CCG	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460122.2		-	ENST00000389363.4	Missense_Mutation	SNP	19 : 19381000 - 19381000 A PAAD-TCGA-US-A776-Tumor-SM-5437B	444	5
TMEM120B	144404	broad.mit.edu	37	12	122213529	122213529	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:122213529G>A	ENST00000540377.1	+	6	427	c.31G>A	c.(31-33)Gtt>Att	p.V11I	TMEM120B_ENST00000449592.2_Silent_p.A307A			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCGTACTGGCGTTCACCTTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	78	75			NA	NA	12		NA											NA				122213529		2089	4210	6299	SO:0001583	missense			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735	144404	144404			32008	protein-coding gene	gene with protein product					NA		Standard	NM_001080825	NM_001080825	NA	Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000540377.1:c.31G>A	12.37:g.122213529G>A	ENSP00000446159:p.Val11Ile	NA	A0PK01|B3KX33	37		.	.	.	.	.	.	.	.	.	.	G	13.62	2.290580	0.40494	.	.	ENSG00000188735	ENST00000540377	.	.	.	5.38	-6.73	0.01749	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41106	-0.9527	5	0.87932	D	0	-23.7117	0.8756	0.01223	0.2122:0.259:0.1413:0.3874	.	.	.	.	I	11	.	ENSP00000446159:V11I	V	+	1	0	TMEM120B	120697912	0.000000	0.05858	0.755000	0.31263	0.977000	0.68977	-5.920000	0.00090	-0.965000	0.03591	0.655000	0.94253	GTT	TMEM120B-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000402160.1		+	ENST00000540377.1	Missense_Mutation	SNP	12 : 122213529 - 122213529 A PAAD-TCGA-US-A776-Tumor-SM-5437B	308	130
TMEM175	84286	broad.mit.edu	37	4	952216	952216	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:952216G>A	ENST00000264771.4	+	11	1632	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K|TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	483						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCGGCCCGAACACCCCCC	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	10,4242		0,10,2116	8	10	9		1447	0	0	4		9	1,8277		0,1,4138	no	missense	TMEM175	NM_032326.2	56	0,11,6254	AA,AG,GG	NA	0.0121,0.2352,0.0878	benign	483/505	952216	11,12519	2126	4139	6265	SO:0001583	missense			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419	84286	84286			28709	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032326	XM_005272301	NA	Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1447G>A	4.37:g.952216G>A	ENSP00000264771:p.Glu483Lys	NA	D3DVN4|Q8ND13	37	CCDS3341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.977|1.977	-0.434967|-0.434967	0.04669|0.04669	0.002352|0.002352	1.21E-4|1.21E-4	ENSG00000127419|ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204|ENST00000505148	T;T;T|.	0.44482|.	1.54;1.5;0.92|.	4.04|4.04	-0.00485|-0.00485	0.14020|0.14020	.|.	0.969423|.	0.08374|.	U|.	0.955581|.	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.20261|.	0.043;0.025|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.11485|.	T|.	0.65|.	-1.1234|-1.1234	4.2497|4.2497	0.10689|0.10689	0.0927:0.4443:0.3119:0.1511|0.0927:0.4443:0.3119:0.1511	.|.	401;483|.	D3DVN5;Q9BSA9|.	.;TM175_HUMAN|.	K|Q	483;367;401|319	ENSP00000264771:E483K;ENSP00000427039:E367K;ENSP00000423669:E401K|.	ENSP00000264771:E483K|.	E|R	+|+	1|2	0|0	TMEM175|TMEM175	942216|942216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.019000|0.019000	0.13444|0.13444	-0.154000|-0.154000	0.11118|0.11118	-0.440000|-0.440000	0.05779|0.05779	GAA|CGA	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239193.2		+	ENST00000264771.4	Missense_Mutation	SNP	4 : 952216 - 952216 A PAAD-TCGA-US-A776-Tumor-SM-5437B	110	43
TMEM9B	56674	broad.mit.edu	37	11	8969885	8969885	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:8969885C>T	ENST00000534025.1	-	5	1038	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TMEM9B_ENST00000525069.1_Silent_p.R119R|TMEM9B_ENST00000309134.5_Silent_p.R119R	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	p.R193R(1)		breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GGACAACATGCCGGTCAAAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											133	125	128			NA	NA	11		NA											NA				8969885		2201	4296	6497	SO:0001819	synonymous_variant			AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348	56674	56674			1168	protein-coding gene	gene with protein product			chromosome 11 open reading frame 15	C11orf15	NA	11528127	Standard		NM_001286095	NA	Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.579G>A	11.37:g.8969885C>T		NA		37	CCDS7796.1																																																																																			TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385722.1		-	ENST00000534025.1	Silent	SNP	11 : 8969885 - 8969885 T PAAD-TCGA-US-A776-Tumor-SM-5437B	895	6
TPSD1	23430	broad.mit.edu	37	16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	53	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCTGGCAGGTGAGCCTGAG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	69	65			NA	NA	16		NA											NA				1306591		2199	4300	6499	SO:0001583	missense			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	23430	23430	3.4.21.59		14118	protein-coding gene	gene with protein product	mMCP-7-like II, mMCP-7-like I, MMCP-7-LIKE-2	609272			NA	9920877	Standard		NM_012217	NA	Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.157G>T	16.37:g.1306591G>T	ENSP00000211076:p.Val53Leu	NA	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	15.49	2.850007	0.51270	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.86865	-2.18;-2.18	3.0	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000568	D	0.92577	0.7642	M	0.84326	2.69	0.50813	D	0.999896	D	0.64830	0.994	D	0.71184	0.972	D	0.93238	0.6623	10	0.87932	D	0	.	11.7565	0.51878	0.0:0.0:1.0:0.0	.	53	Q9BZJ3	TRYD_HUMAN	L	46;53	ENSP00000380668:V46L;ENSP00000211076:V53L	ENSP00000211076:V53L	V	+	1	0	TPSD1	1246592	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.053000	0.49901	1.642000	0.50584	0.185000	0.17295	GTG	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250320.2		+	ENST00000211076.3	Missense_Mutation	SNP	16 : 1306591 - 1306591 T PAAD-TCGA-US-A776-Tumor-SM-5437B	581	91
TRPA1	8989	broad.mit.edu	37	8	72981266	72981266	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:72981266C>T	ENST00000262209.4	-	3	643	c.436G>A	c.(436-438)Gtg>Atg	p.V146M		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	146						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACCTTCATCACCTCATTATTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	219	215			NA	NA	8		NA											NA				72981266		2203	4300	6503	SO:0001583	missense			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321	8989	8989		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	497	protein-coding gene	gene with protein product		604775	ankyrin-like with transmembrane domains 1	ANKTM1	NA	16382100	Standard	NM_007332	NM_007332	NA	Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.436G>A	8.37:g.72981266C>T	ENSP00000262209:p.Val146Met	NA	A6NIN6	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555713	0.27827	.	.	ENSG00000104321	ENST00000262209	T	0.67865	-0.29	5.74	0.553	0.17235	Ankyrin repeat-containing domain (4);	0.500993	0.22628	N	0.057618	T	0.43144	0.1234	L	0.27053	0.805	0.09310	N	1	B	0.27380	0.177	B	0.18561	0.022	T	0.27872	-1.0061	10	0.54805	T	0.06	-6.309	1.9276	0.03320	0.1318:0.386:0.1307:0.3514	.	146	O75762	TRPA1_HUMAN	M	146	ENSP00000262209:V146M	ENSP00000262209:V146M	V	-	1	0	TRPA1	73143820	0.922000	0.31269	0.018000	0.16275	0.041000	0.13682	0.564000	0.23563	0.160000	0.19432	0.655000	0.94253	GTG	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379079.2		-	ENST00000262209.4	Missense_Mutation	SNP	8 : 72981266 - 72981266 T PAAD-TCGA-US-A776-Tumor-SM-5437B	1471	59
TRPV3	162514	broad.mit.edu	37	17	3432261	3432261	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:3432261G>A	ENST00000301365.4	-	10	1402	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L|TRPV3_ENST00000576742.1_Missense_Mutation_p.P424L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	424						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGTGTGCAGCGGCTCCAGGGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	147	152			NA	NA	17		NA											NA				3432261		2203	4300	6503	SO:0001583	missense			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723	162514	162514		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18084	protein-coding gene	gene with protein product		607066			NA	12016205, 12077606, 16382100	Standard	NM_145068	NM_001258205	NA	Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000301365.4:c.1271C>T	17.37:g.3432261G>A	ENSP00000301365:p.Pro424Leu	NA	Q8NDW7|Q8NET9|Q8NFH2	37	CCDS58500.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228444	0.79576	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.91351	-2.83	5.12	5.12	0.69794	.	0.161457	0.43416	D	0.000577	D	0.94358	0.8186	L	0.59912	1.85	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;0.965;0.999;1.0;0.999;0.99;0.983;1.0	D;P;D;D;D;P;B;D	0.91635	0.998;0.83;0.951;0.998;0.964;0.523;0.324;0.999	D	0.94807	0.7975	10	0.87932	D	0	-12.014	17.9362	0.89013	0.0:0.0:1.0:0.0	.	6;408;408;424;408;424;424;424	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	L	424;424;408	ENSP00000301365:P424L	ENSP00000301365:P424L	P	-	2	0	TRPV3	3379011	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	7.536000	0.82023	2.563000	0.86464	0.655000	0.94253	CCG	TRPV3-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438245.1		-	ENST00000301365.4	Missense_Mutation	SNP	17 : 3432261 - 3432261 A PAAD-TCGA-US-A776-Tumor-SM-5437B	824	366
TSNAXIP1	55815	broad.mit.edu	37	16	67859904	67859904	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:67859904C>T	ENST00000388833.3	+	9	1284	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R288W	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	303					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCTGAAGGAACGGGACCAATT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	53	57			NA	NA	16		NA											NA				67859904		2198	4300	6498	SO:0001583	missense			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904	55815	55815			18586	protein-coding gene	gene with protein product		607720			NA	12036294	Standard	NM_018430	XM_005256051	NA	Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.907C>T	16.37:g.67859904C>T	ENSP00000373485:p.Arg303Trp	NA	Q9P105	37	CCDS10846.2	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503197	0.44558	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.8	4.77	0.60923	.	0.094081	0.43110	D	0.000606	T	0.77212	0.4097	M	0.68952	2.095	0.36487	D	0.868176	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.985;0.999;0.999;0.985;0.999	T	0.82546	-0.0403	9	0.87932	D	0	-20.0397	15.6556	0.77133	0.1458:0.8542:0.0:0.0	.	288;357;93;11;303;288	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	W	288;303;93	.	ENSP00000373485:R303W	R	+	1	2	TSNAXIP1	66417405	1.000000	0.71417	0.993000	0.49108	0.155000	0.21991	1.111000	0.31159	2.735000	0.93741	0.655000	0.94253	CGG	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268876.2		+	ENST00000388833.3	Missense_Mutation	SNP	16 : 67859904 - 67859904 T PAAD-TCGA-US-A776-Tumor-SM-5437B	253	97
TSR3	115939	broad.mit.edu	37	16	1399510	1399510	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1399510C>T	ENST00000007390.2	-	6	973	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)	NA											NA						CCCGTCCCTGCGTCTGCTCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	134	127			NA	NA	16		NA											NA				1399510		2199	4300	6499	SO:0001819	synonymous_variant			BC013943	CCDS10435.1	16p13.3	2012-06-06	2012-06-06	2012-06-06	ENSG00000007520	ENSG00000007520	115939	115939			14175	protein-coding gene	gene with protein product			chromosome 16 open reading frame 42	C16orf42	NA	12477932	Standard	NM_001001410	NM_001001410	NA	Approved	MGC24381	uc002cll.3	Q9UJK0	OTTHUMG00000047834	ENST00000007390.2:c.867G>A	16.37:g.1399510C>T		NA		37	CCDS10435.1																																																																																			TSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109057.2		-	ENST00000007390.2	Silent	SNP	16 : 1399510 - 1399510 T PAAD-TCGA-US-A776-Tumor-SM-5437B	1150	48
TTN	7273	broad.mit.edu	37	2	179393379	179393387	+	In_Frame_Del	DEL	TCTGAGAGT	TCTGAGAGT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	TCTGAGAGT	TCTGAGAGT	-	-	TCTGAGAGT	TCTGAGAGT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:179393379_179393387delTCTGAGAGT	ENST00000589042.1	-	360	107315_107323	c.107091_107099delACTCTCAGA	c.(107089-107100)gaactctcagat>gat	p.ELS35697del	TTN_ENST00000342992.6_In_Frame_Del_p.ELS33129del|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELS26632del|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELS26757del|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELS26824del|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.ELS34056del	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGGAGCATCTGAGAGTTCTTTGCTCA	0.431		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.107091_107099delACTCTCAGA	2.37:g.179393379_179393387delTCTGAGAGT	ENSP00000467141:p.Glu35697_Ser35699del	NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	In_Frame_Del	DEL	2 : 179393379 - 179393387 - PAAD-TCGA-US-A776-Tumor-SM-5437B	104	26
UBAP1	51271	broad.mit.edu	37	9	34241398	34241398	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:34241398G>A	ENST00000297661.4	+	4	610	c.375G>A	c.(373-375)caG>caA	p.Q125Q	UBAP1_ENST00000543944.1_Silent_p.Q161Q|UBAP1_ENST00000359544.2_Silent_p.Q125Q|UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000379186.4_Silent_p.Q125Q|UBAP1_ENST00000536252.1_Silent_p.Q125Q|UBAP1_ENST00000545103.1_Silent_p.Q189Q	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	125						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCAGCTTGCAGCACAACAGCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(109;1074 1634 14978 20375 39620)							NA				0													158	145	149			NA	NA	9		NA											NA				34241398		2203	4300	6503	SO:0001819	synonymous_variant			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006	51271	51271			12461	protein-coding gene	gene with protein product		609787	ubiquitin associated protein	UBAP	NA		Standard		NM_001171201	NA	Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.375G>A	9.37:g.34241398G>A		NA	D3DRL7|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	37	CCDS6550.1																																																																																			UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001084.1		+	ENST00000297661.4	Silent	SNP	9 : 34241398 - 34241398 A PAAD-TCGA-US-A776-Tumor-SM-5437B	382	6
UBE3C	9690	broad.mit.edu	37	7	156994419	156994419	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:156994419C>A	ENST00000348165.5	+	11	1696	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	446					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTAGGCTTCTCTACAGTTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	132	138			NA	NA	7		NA											NA				156994419		2203	4300	6503	SO:0001583	missense			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335	9690	9690			16803	protein-coding gene	gene with protein product		614454			NA	7584026, 11278995	Standard	NM_014671	NM_014671	NA	Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1336C>A	7.37:g.156994419C>A	ENSP00000309198:p.Leu446Ile	NA	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405940	0.62288	.	.	ENSG00000009335	ENST00000348165	T	0.63255	-0.03	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.72894	2.215	0.80722	D	1	P;P	0.52316	0.888;0.952	P;P	0.52758	0.622;0.708	T	0.72214	-0.4358	10	0.48119	T	0.1	-23.106	14.1289	0.65240	0.0:0.9285:0.0:0.0715	.	446;446	Q15386;Q15386-2	UBE3C_HUMAN;.	I	446	ENSP00000309198:L446I	ENSP00000309198:L446I	L	+	1	0	UBE3C	156687180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.328000	0.65887	2.716000	0.92895	0.591000	0.81541	CTC	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348108.1		+	ENST00000348165.5	Missense_Mutation	SNP	7 : 156994419 - 156994419 A PAAD-TCGA-US-A776-Tumor-SM-5437B	544	25
UMODL1	89766	broad.mit.edu	37	21	43529716	43529716	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:43529716G>A	ENST00000400424.2	+	10	1744	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	UMODL1_ENST00000408910.2_Missense_Mutation_p.A522T|UMODL1_ENST00000400427.1_Missense_Mutation_p.A450T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1	NA	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGCTCACCGGCTGCCTGGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)							NA				0													70	83	79			NA	NA	21		NA											NA				43529716		2051	4178	6229	SO:0001583	missense				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398	89766	89766			12560	protein-coding gene	gene with protein product	olfactorin	613859			NA	16026467	Standard		NM_173568	NA	Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000400424.2:c.1348G>A	21.37:g.43529716G>A	ENSP00000383276:p.Ala450Thr	NA	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	37	CCDS56214.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551127	0.13374	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.92149	-1.54;-2.98;-1.54;-2.98	3.23	1.34	0.21922	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.885950	0.03158	N	0.168966	D	0.87010	0.6071	N	0.16790	0.44	0.09310	N	1	B;B	0.32753	0.383;0.055	B;B	0.40009	0.316;0.093	T	0.77357	-0.2618	10	0.27785	T	0.31	-3.9791	5.9046	0.18986	0.2526:0.0:0.7474:0.0	.	522;522	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	450;450;522;522	ENSP00000383279:A450T;ENSP00000383276:A450T;ENSP00000386126:A522T;ENSP00000386147:A522T	ENSP00000383276:A450T	A	+	1	0	UMODL1	42402785	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	0.384000	0.20668	0.364000	0.24374	-0.150000	0.13652	GCT	UMODL1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195294.2		+	ENST00000400424.2	Missense_Mutation	SNP	21 : 43529716 - 43529716 A PAAD-TCGA-US-A776-Tumor-SM-5437B	637	6
VTA1	51534	broad.mit.edu	37	6	142539725	142539725	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:142539725C>A	ENST00000367630.4	+	8	927	c.869C>A	c.(868-870)aCt>aAt	p.T290N	VTA1_ENST00000367621.1_Missense_Mutation_p.T232N|VTA1_ENST00000452973.2_Missense_Mutation_p.T205N	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	290	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GATGTAAGCACTGCTGTCCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	6		NA											NA				142539725		2203	4299	6502	SO:0001583	missense			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844	51534	51534			20954	protein-coding gene	gene with protein product		610902	chromosome 6 open reading frame 55, Vps20-associated 1 homolog (S. cerevisiae)	C6orf55	NA	11489251, 15644320	Standard	NM_016485	NM_001286372	NA	Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.869C>A	6.37:g.142539725C>A	ENSP00000356602:p.Thr290Asn	NA	E1P594|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	37	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959933	0.92791	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.56776	0.44;0.44;0.44	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.72849	-0.4168	10	0.59425	D	0.04	-18.7284	20.3311	0.98718	0.0:1.0:0.0:0.0	.	205;290	E7ETQ7;Q9NP79	.;VTA1_HUMAN	N	290;232;205	ENSP00000356602:T290N;ENSP00000356593:T232N;ENSP00000395767:T205N	ENSP00000356593:T232N	T	+	2	0	VTA1	142581418	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.395000	0.79876	2.803000	0.96430	0.650000	0.86243	ACT	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042483.2		+	ENST00000367630.4	Missense_Mutation	SNP	6 : 142539725 - 142539725 A PAAD-TCGA-US-A776-Tumor-SM-5437B	298	164
WDR6	11180	broad.mit.edu	37	3	49049353	49049353	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49049353T>C	ENST00000415265.2	+	2	136				WDR6_ENST00000608424.1_Missense_Mutation_p.I129T|WDR6_ENST00000395474.3_Missense_Mutation_p.I159T|WDR6_ENST00000448293.1_Missense_Mutation_p.I78T|WDR6_ENST00000489684.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	NA					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAGGGAAATATAGCCTTGGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	3		NA											NA				49049353		2203	4300	6503	SO:0001627	intron_variant			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252	11180	11180		WD repeat domain containing	12758	protein-coding gene	gene with protein product		606031			NA		Standard		NM_018031	NA	Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000415265.2:c.101-1371T>C	3.37:g.49049353T>C		NA	B4DHK2|Q3MIT1|Q9UF63	37		.	.	.	.	.	.	.	.	.	.	T	4.790	0.146928	0.09134	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.75938	-0.49;-0.49;-0.98	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.715972	0.12669	N	0.448892	T	0.62588	0.2440	N	0.19112	0.55	0.09310	N	1	B;B	0.23735	0.003;0.09	B;B	0.16722	0.006;0.016	T	0.54214	-0.8327	10	0.40728	T	0.16	-0.1838	14.4632	0.67465	0.0:0.0:0.0:1.0	.	129;78	Q9NNW5;E9PDU5	WDR6_HUMAN;.	T	159;161;129;78	ENSP00000378857:I159T;ENSP00000387692:I161T;ENSP00000413432:I78T	ENSP00000346247:I129T	I	+	2	0	WDR6	49024357	0.984000	0.35163	0.098000	0.21074	0.245000	0.25701	6.731000	0.74785	2.060000	0.61445	0.459000	0.35465	ATA	WDR6-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000342278.1		+	ENST00000415265.2	Intron	SNP	3 : 49049353 - 49049353 C PAAD-TCGA-US-A776-Tumor-SM-5437B	379	8
WWC3	55841	broad.mit.edu	37	X	10090710	10090710	+	Missense_Mutation	SNP	G	G	A	rs139403054	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10090710G>A	ENST00000380861.4	+	12	2073	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	561										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGGGCACGCCGCATCTCCGCA	0.522		NA											G	0	0	NA	NA	1659	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	2e-04	0.1298	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	HIS/ARG	1,3834		0,1,0,1631,571	274	248	257		1682	3	0	X	dbSNP_134	257	3,6725		0,1,2,2427,1870	yes	missense	WWC3	NM_015691.3	29	0,2,2,4058,2441	AA,AG,A,GG,G	NA	0.0446,0.0261,0.0379	probably-damaging	561/1093	10090710	4,10559	2203	4300	6503	SO:0001583	missense			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644	55841	55841		WW, C2 and coiled-coil domain containing	29237	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_015691	NM_015691	NA	Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1682G>A	X.37:g.10090710G>A	ENSP00000370242:p.Arg561His	NA	A8KA96|Q659C1|Q9BTQ1	37	CCDS14136.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.51	2.854240	0.51270	2.61E-4	4.46E-4	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.16897	2.31;2.31	4.73	2.95	0.34219	.	0.180568	0.48767	N	0.000178	T	0.38427	0.1040	M	0.76574	2.34	0.42547	D	0.993098	D	0.89917	1.0	D	0.83275	0.996	T	0.06391	-1.0829	9	.	.	.	-3.4228	10.5601	0.45140	0.1632:0.0:0.8368:0.0	.	561	Q9ULE0	WWC3_HUMAN	H	561;561;56	ENSP00000370242:R561H;ENSP00000399584:R561H	.	R	+	2	0	WWC3	10050710	1.000000	0.71417	0.009000	0.14445	0.539000	0.34962	4.037000	0.57311	0.302000	0.22762	0.600000	0.82982	CGC	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055725.1		+	ENST00000380861.4	Missense_Mutation	SNP	X : 10090710 - 10090710 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1294	9
WWC3	55841	broad.mit.edu	37	X	10094325	10094325	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10094325G>A	ENST00000380861.4	+	15	2476	c.2085G>A	c.(2083-2085)ccG>ccA	p.P695P	WWC3_ENST00000454666.1_Silent_p.P695P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	695	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGTGACTCCGCAGCTGCAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	75	81			NA	NA	X		NA											NA				10094325		2203	4300	6503	SO:0001819	synonymous_variant			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644	55841	55841		WW, C2 and coiled-coil domain containing	29237	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_015691	NM_015691	NA	Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2085G>A	X.37:g.10094325G>A		NA	A8KA96|Q659C1|Q9BTQ1	37	CCDS14136.1																																																																																			WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055725.1		+	ENST00000380861.4	Silent	SNP	X : 10094325 - 10094325 A PAAD-TCGA-US-A776-Tumor-SM-5437B	347	42
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622		NA											G	1	5e-04	NA	NA	2184	NA	0.9995	,	,	NA	3e-04	0.0013	NA	NA	7e-04	0.8078	EXOME	NA	NA	2e-04	SNP								NA				0													123	114	117			NA	NA	17		NA											NA				74077738		2203	4300	6503	SO:0001583	missense			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919	353174	353174		Ligand-gated ion channels / Zinc activated channels	29504	protein-coding gene	gene with protein product		610935	ligand-gated ion channel, zinc activated 1	LGICZ1	NA	12381728, 16083862	Standard	NM_180990	NM_180990	NA	Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His	NA	Q2TB29|Q6ZWK3|Q86YW4	37	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347827.2		+	ENST00000334586.5	Missense_Mutation	SNP	17 : 74077738 - 74077738 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1134	8
ZNF180	7733	broad.mit.edu	37	19	44981580	44981580	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:44981580C>A	ENST00000221327.4	-	5	1399	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R373I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGTGTGAGTTCTCTGATGTGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(180;1353 2003 32862 46574 49854)							NA				1	Substitution - Missense(1)	large_intestine(1)											79	79	79			NA	NA	19		NA											NA				44981580		2203	4299	6502	SO:0001583	missense			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384	7733	7733		Zinc fingers, C2H2-type, -	12970	protein-coding gene	gene with protein product		606740	zinc finger protein 180 (HHZ168)		NA		Standard	NM_013256	NM_001288762	NA	Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1118G>T	19.37:g.44981580C>A	ENSP00000221327:p.Arg373Ile	NA	B2RCN6|Q9P1U2	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527425	0.64860	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.28	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000322	T	0.44993	0.1320	M	0.73962	2.25	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.991	P;P;P	0.57960	0.82;0.83;0.83	T	0.49790	-0.8902	10	0.87932	D	0	-25.9269	13.6071	0.62054	0.156:0.844:0.0:0.0	.	348;372;373	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	373;348	ENSP00000221327:R373I;ENSP00000375818:R348I	ENSP00000221327:R373I	R	-	2	0	ZNF180	49673420	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-1.112000	0.03299	2.444000	0.82710	0.655000	0.94253	AGA	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451601.1		-	ENST00000221327.4	Missense_Mutation	SNP	19 : 44981580 - 44981580 A PAAD-TCGA-US-A776-Tumor-SM-5437B	777	32
ZNF300	91975	broad.mit.edu	37	5	150275578	150275578	+	Missense_Mutation	SNP	G	G	A	rs141369580		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:150275578G>A	ENST00000394226.2	-	6	1638	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	ZNF300_ENST00000446148.2_Missense_Mutation_p.P424L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.P408L|ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L			Q96RE9	ZN300_HUMAN	zinc finger protein 300	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCATACGGCTTCTCTCC	0.448		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	1,4405	2.1+/-5.4	0,1,2202	57	55	56		1271,1115,1223	3	0.9	5	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense	ZNF300	NM_001172831.1,NM_001172832.1,NM_052860.2	98,98,98	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	424/621,372/569,408/605	150275578	1,13005	2203	4300	6503	SO:0001583	missense			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908	91975	91975		Zinc fingers, C2H2-type, -	13091	protein-coding gene	gene with protein product		612429			NA	14746915	Standard	NM_052860	NM_052860	NA	Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000394226.2:c.1223C>T	5.37:g.150275578G>A	ENSP00000377773:p.Pro408Leu	NA	A8MY91|B3KU35|B4DU78|Q06DQ3|Q17RP3|Q5H9N5	37		.	.	.	.	.	.	.	.	.	.	G	17.87	3.494842	0.64186	2.27E-4	0.0	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	3.87	2.95	0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	M	0.81614	2.55	0.45946	D	0.998776	D	0.89917	1.0	D	0.77004	0.989	T	0.33624	-0.9861	9	0.87932	D	0	.	10.3154	0.43734	0.0:0.0:0.8014:0.1986	.	408	Q96RE9	ZN300_HUMAN	L	424;408;372;408	ENSP00000397178:P424L;ENSP00000274599:P408L;ENSP00000392593:P372L;ENSP00000377773:P408L	ENSP00000274599:P408L	P	-	2	0	ZNF300	150255771	1.000000	0.71417	0.945000	0.38365	0.930000	0.56654	6.825000	0.75293	0.913000	0.36797	0.591000	0.81541	CCG	ZNF300-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000252368.1		-	ENST00000394226.2	Missense_Mutation	SNP	5 : 150275578 - 150275578 A PAAD-TCGA-US-A776-Tumor-SM-5437B	397	8
ZNF595	152687	broad.mit.edu	37	4	59365	59365	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:59365G>A	ENST00000509152.2	+	2	231	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K					zinc finger protein 595	NA										endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATTCTCCCCTGAAGAGTGGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													351	382	372			NA	NA	4		NA											NA				59365		2203	4300	6503	SO:0001583	missense			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602	152687	152687		Zinc fingers, C2H2-type, -	27196	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182524	NM_182524	NA	Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.46G>A	4.37:g.59365G>A	ENSP00000434858:p.Glu16Lys	NA		37		.	.	.	.	.	.	.	.	.	.	G	15.48	2.845681	0.51164	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.03607	3.87;3.87	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.13243	0.0321	.	.	.	0.23991	N	0.996247	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.06023	-1.0850	8	0.72032	D	0.01	.	7.9738	0.30143	0.0:0.0:1.0:0.0	.	16;16	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	K	16	ENSP00000434858:E16K;ENSP00000437878:E16K	ENSP00000434858:E16K	E	+	1	0	ZNF595	49365	0.808000	0.29022	0.022000	0.16811	0.119000	0.20118	1.629000	0.37071	0.655000	0.30866	0.484000	0.47621	GAA	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357817.2		+	ENST00000509152.2	Missense_Mutation	SNP	4 : 59365 - 59365 A PAAD-TCGA-US-A776-Tumor-SM-5437B	1558	23
ZNF831	128611	broad.mit.edu	37	20	57766735	57766735	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57766735G>A	ENST00000371030.2	+	1	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	221						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGACAAGGCCGGAGAGCCCCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	31	28			NA	NA	20		NA											NA				57766735		1872	4099	5971	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.661G>A	20.37:g.57766735G>A	ENSP00000360069:p.Gly221Arg	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585600	0.28268	.	.	ENSG00000124203	ENST00000371030	T	0.05139	3.49	4.89	3.92	0.45320	.	.	.	.	.	T	0.03783	0.0107	L	0.27053	0.805	0.09310	N	1	P	0.43885	0.82	B	0.26517	0.07	T	0.41448	-0.9508	9	0.38643	T	0.18	-0.5148	9.5927	0.39557	0.0805:0.1439:0.7756:0.0	.	221	Q5JPB2	ZN831_HUMAN	R	221	ENSP00000360069:G221R	ENSP00000360069:G221R	G	+	1	0	ZNF831	57200130	0.059000	0.20769	0.001000	0.08648	0.252000	0.25951	1.423000	0.34837	1.030000	0.39839	0.561000	0.74099	GGA	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57766735 - 57766735 A PAAD-TCGA-US-A776-Tumor-SM-5437B	352	5
