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
ACVR2A	92	broad.mit.edu	37	2	148657443	148657443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657443C>A	ENST00000241416.7	+	4	1140	c.504C>A	c.(502-504)taC>taA	p.Y168*	AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y168*|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y60*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	168					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGATGGCCTACCCTCCTGTAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	179	186			NA	NA	2		NA											NA				148657443		2203	4300	6503	SO:0001587	stop_gained				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989	92	92			173	protein-coding gene	gene with protein product		102581	activin A receptor, type II	ACVR2	NA	1314589, 10702675	Standard	NM_001616	NM_001278579	NA	Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.504C>A	2.37:g.148657443C>A	ENSP00000241416:p.Tyr168*	NA	B2RAB8|D3DP85|Q53TH4|Q6NWV2|Q92474	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	39	7.653516	0.98412	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.22	0.915	0.19366	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6266	0.33892	0.0:0.4945:0.0:0.5055	.	.	.	.	X	168;60;168	.	ENSP00000241416:Y168X	Y	+	3	2	ACVR2A	148373913	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	0.268000	0.18571	0.174000	0.19809	0.585000	0.79938	TAC	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319051.1		+	ENST00000241416.7	Nonsense_Mutation	SNP	2 : 148657443 - 148657443 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	526	20
ACVR2A	92	broad.mit.edu	37	2	148657447	148657447	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657447C>G	ENST00000241416.7	+	4	1144	c.508C>G	c.(508-510)Cct>Gct	p.P170A	AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Missense_Mutation_p.P170A|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P62A	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	170					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGCCTACCCTCCTGTACTTGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	175	181			NA	NA	2		NA											NA				148657447		2203	4300	6503	SO:0001583	missense				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989	92	92			173	protein-coding gene	gene with protein product		102581	activin A receptor, type II	ACVR2	NA	1314589, 10702675	Standard	NM_001616	NM_001278579	NA	Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.508C>G	2.37:g.148657447C>G	ENSP00000241416:p.Pro170Ala	NA	B2RAB8|D3DP85|Q53TH4|Q6NWV2|Q92474	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185208	0.21870	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83506	-1.73;-1.64;-1.73	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.047266	0.85682	D	0.000000	T	0.73877	0.3643	L	0.31294	0.92	0.58432	D	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.67960	-0.5535	10	0.11182	T	0.66	.	17.333	0.87271	0.0:1.0:0.0:0.0	.	170	P27037	AVR2A_HUMAN	A	170;62;170	ENSP00000241416:P170A;ENSP00000439988:P62A;ENSP00000384338:P170A	ENSP00000241416:P170A	P	+	1	0	ACVR2A	148373917	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.550000	0.60733	2.608000	0.88229	0.585000	0.79938	CCT	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319051.1		+	ENST00000241416.7	Missense_Mutation	SNP	2 : 148657447 - 148657447 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	512	19
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:220100575C>T	ENST00000323348.5	+	12	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	650						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGATTTGCCGCCCTCAGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	122	117			NA	NA	2		NA											NA				220100575		2170	4259	6429	SO:0001583	missense			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516	55139	55139		Zinc fingers, C2H2-type, Ankyrin repeat domain containing	25527	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018089	NM_018089	NA	Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1949C>T	2.37:g.220100575C>T	ENSP00000321617:p.Ala650Val	NA	Q9NVZ4	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	16.01	2.999912	0.54147	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.94457	-3.43;-3.43;-3.43	5.38	5.38	0.77491	.	0.052384	0.85682	D	0.000000	D	0.93546	0.7940	L	0.58101	1.795	0.51767	D	0.999938	P	0.35982	0.531	B	0.37387	0.248	D	0.92703	0.6176	10	0.44086	T	0.13	-10.735	19.3333	0.94303	0.0:1.0:0.0:0.0	.	650	Q9H8Y5	ANKZ1_HUMAN	V	650;440;650	ENSP00000321617:A650V;ENSP00000386815:A440V;ENSP00000386337:A650V	ENSP00000321617:A650V	A	+	2	0	ANKZF1	219808819	0.995000	0.38212	0.989000	0.46669	0.456000	0.32438	3.301000	0.51842	2.793000	0.96121	0.655000	0.94253	GCC	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335790.1		+	ENST00000323348.5	Missense_Mutation	SNP	2 : 220100575 - 220100575 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	807	7
ARF3	377	broad.mit.edu	37	12	49334797	49334797	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49334797C>T	ENST00000447318.2	-	2	342	c.82G>A	c.(82-84)Gca>Aca	p.A28T	ARF3_ENST00000256682.4_Missense_Mutation_p.A28T|ARF3_ENST00000541959.1_Missense_Mutation_p.A28T|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.A28T			P61204	ARF3_HUMAN	ADP-ribosylation factor 3	28					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						GTCTTTCCTGCGGCATCCAGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(189;1862 2134 4419 30933 49364)							NA				0													251	212	225			NA	NA	12		NA											NA				49334797		2203	4300	6503	SO:0001583	missense			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287	377	377		ADP-ribosylation factors	654	protein-coding gene	gene with protein product	small GTP binding protein	103190			NA	8661066	Standard	NM_001659	NM_001659	NA	Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000447318.2:c.82G>A	12.37:g.49334797C>T	ENSP00000395370:p.Ala28Thr	NA	A8K6G8|P16587	37		.	.	.	.	.	.	.	.	.	.	C	24.8	4.567213	0.86439	.	.	ENSG00000134287	ENST00000398092;ENST00000256682;ENST00000447318;ENST00000541959;ENST00000541236;ENST00000539611;ENST00000545855	T;T;D;T;T;T;T	0.84070	-0.77;-0.77;-1.8;-0.77;-0.77;-0.77;-0.77	4.96	4.96	0.65561	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.75484	0.888;0.986	D	0.96383	0.9283	10	0.87932	D	0	.	17.3435	0.87304	0.0:1.0:0.0:0.0	.	28;28	B7ZB63;P61204	.;ARF3_HUMAN	T	28	ENSP00000438507:A28T;ENSP00000256682:A28T;ENSP00000395370:A28T;ENSP00000438510:A28T;ENSP00000438063:A28T;ENSP00000437374:A28T;ENSP00000446353:A28T	ENSP00000256682:A28T	A	-	1	0	ARF3	47621064	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	6.049000	0.71053	2.476000	0.83614	0.561000	0.74099	GCA	ARF3-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398004.1		-	ENST00000447318.2	Missense_Mutation	SNP	12 : 49334797 - 49334797 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	831	8
ATP11A	23250	broad.mit.edu	37	13	113487219	113487219	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:113487219G>A	ENST00000487903.1	+	14	1529	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I	ATP11A_ENST00000283558.8_Missense_Mutation_p.V481I|ATP11A_ENST00000375630.2_Missense_Mutation_p.V481I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V481I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	481					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGCCACACCGTCCAGGTGAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	171	164			NA	NA	13		NA											NA				113487219		2203	4300	6503	SO:0001583	missense			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	23250	23250	3.6.3.1	ATPases / P-type	13552	protein-coding gene	gene with protein product	potential phospholipid-transporting ATPase IH, phospholipid-translocating ATPase	605868	ATPase, Class VI, type 11A		NA	11015572	Standard	NM_015205	NM_032189	NA	Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1441G>A	13.37:g.113487219G>A	ENSP00000420387:p.Val481Ile	NA	Q5VXT2	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066217	0.55539	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.71	1.25	0.21368	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.112246	0.64402	N	0.000012	T	0.71333	0.3327	M	0.79693	2.465	0.49798	D	0.999821	B;P;B	0.34977	0.083;0.478;0.078	B;B;B	0.40375	0.05;0.323;0.327	T	0.73512	-0.3959	10	0.62326	D	0.03	.	15.3928	0.74758	0.1045:0.0:0.8955:0.0	.	481;481;481	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	I	481	ENSP00000420387:V481I;ENSP00000364781:V481I;ENSP00000364796:V481I;ENSP00000283558:V481I	ENSP00000283558:V481I	V	+	1	0	ATP11A	112535220	1.000000	0.71417	0.103000	0.21229	0.767000	0.43475	3.808000	0.55598	-0.054000	0.13266	0.561000	0.74099	GTC	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045834.3		+	ENST00000487903.1	Missense_Mutation	SNP	13 : 113487219 - 113487219 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1322	7
B3GNT5	84002	broad.mit.edu	37	3	182988349	182988349	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:182988349G>A	ENST00000326505.3	+	2	1293	c.763G>A	c.(763-765)Gga>Aga	p.G255R	B3GNT5_ENST00000460419.1_Missense_Mutation_p.G255R|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G255R|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	255					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTACACAGCCGGAGCTGCCTA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	56	58			NA	NA	3		NA											NA				182988349		2203	4300	6503	SO:0001583	missense			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	84002	84002	2.4.1.206	Beta 3-glycosyltransferases	15684	protein-coding gene	gene with protein product	lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase	615333			NA	11283017	Standard	NM_032047	XM_005247824	NA	Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.763G>A	3.37:g.182988349G>A	ENSP00000316173:p.Gly255Arg	NA	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	37	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767063	0.49574	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.68181	-0.31;-0.31;-0.31	5.91	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90542	0.4503	10	0.62326	D	0.03	.	15.1217	0.72450	0.0677:0.0:0.9323:0.0	.	255	Q9BYG0	B3GN5_HUMAN	R	255	ENSP00000316173:G255R;ENSP00000420778:G255R;ENSP00000417868:G255R	ENSP00000316173:G255R	G	+	1	0	B3GNT5	184471043	1.000000	0.71417	0.075000	0.20258	0.107000	0.19398	9.869000	0.99810	1.514000	0.48869	-0.145000	0.13849	GGA	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351009.1		+	ENST00000326505.3	Missense_Mutation	SNP	3 : 182988349 - 182988349 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	261	4
BAIAP2	10458	broad.mit.edu	37	17	79078379	79078379	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:79078379C>T	ENST00000416299.2	+	5	721	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000321300.6_Missense_Mutation_p.R378W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W			Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	378	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCGTATGCGGGTGAAGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	48	49			NA	NA	17		NA											NA				79078379		2202	4299	6501	SO:0001583	missense			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866		10458	10458			947	protein-coding gene	gene with protein product		605475			NA	10343108	Standard		NM_017451	NA	Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000416299.2:c.721C>T	17.37:g.79078379C>T	ENSP00000391837:p.Arg241Trp	NA	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	37		.	.	.	.	.	.	.	.	.	.	C	19.77	3.889006	0.72524	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.37411	1.64;1.66;1.21;1.21;1.65;1.2	4.79	2.58	0.30949	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.91920	3.255	0.58432	D	0.999998	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;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;1.0;0.999;0.999;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.6775	13.6331	0.62206	0.3669:0.6331:0.0:0.0	.	241;300;379;378;378;378;378;379;378	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	W	378;378;378;378;300;241	ENSP00000316338:R378W;ENSP00000401022:R378W;ENSP00000413069:R378W;ENSP00000315685:R378W;ENSP00000376211:R300W;ENSP00000391837:R241W	ENSP00000315685:R378W	R	+	1	2	BAIAP2	76692974	0.985000	0.35326	1.000000	0.80357	0.889000	0.51656	0.882000	0.28186	1.110000	0.41699	0.484000	0.47621	CGG	BAIAP2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438562.2		+	ENST00000416299.2	Missense_Mutation	SNP	17 : 79078379 - 79078379 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	377	5
BDH2	56898	broad.mit.edu	37	4	104000881	104000881	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:104000881A>G	ENST00000296424.4	-	10	836	c.716T>C	c.(715-717)aTt>aCt	p.I239T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	239					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GCCTCCATCAATGATGACAGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	110	116			NA	NA	4		NA											NA				104000881		2203	4300	6503	SO:0001583	missense			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	56898	56898	1.1.1.30	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1	32389	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 15C, member 1		dehydrogenase/reductase (SDR family) member 6	DHRS6	NA	16380372, 19027726	Standard	NM_020139	XM_005263140	NA	Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.716T>C	4.37:g.104000881A>G	ENSP00000296424:p.Ile239Thr	NA	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	37	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392016	0.83011	.	.	ENSG00000164039	ENST00000296424	T	0.25414	1.8	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.232522	0.43579	D	0.000549	T	0.48333	0.1494	M	0.72624	2.21	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	T	0.51100	-0.8748	10	0.87932	D	0	.	13.0737	0.59075	1.0:0.0:0.0:0.0	.	239	Q9BUT1	BDH2_HUMAN	T	239	ENSP00000296424:I239T	ENSP00000296424:I239T	I	-	2	0	BDH2	104220330	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.861000	0.87004	2.130000	0.65690	0.477000	0.44152	ATT	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157159.2		-	ENST00000296424.4	Missense_Mutation	SNP	4 : 104000881 - 104000881 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	263	4
CACNG1	786	broad.mit.edu	37	17	65051326	65051326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:65051326C>T	ENST00000226021.3	+	3	483	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	138					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CTATCTGCTGCGACCCGCGTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	85	93			NA	NA	17		NA											NA				65051326		2203	4300	6503	SO:0001587	stop_gained			L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878	786	786		Calcium channel subunits	1405	protein-coding gene	gene with protein product		114209		CACNLG	NA	8395940	Standard		NM_000727	NA	Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.412C>T	17.37:g.65051326C>T	ENSP00000226021:p.Arg138*	NA	B2R9N3|Q14D59	37	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459665	0.43736	.	.	ENSG00000108878	ENST00000226021	.	.	.	5.14	0.225	0.15325	.	0.072524	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.2269	0.65866	0.5757:0.4243:0.0:0.0	.	.	.	.	X	138	.	ENSP00000226021:R138X	R	+	1	2	CACNG1	62481788	1.000000	0.71417	0.992000	0.48379	0.137000	0.21094	2.256000	0.43231	-0.214000	0.10078	0.462000	0.41574	CGA	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447039.1		+	ENST00000226021.3	Nonsense_Mutation	SNP	17 : 65051326 - 65051326 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	309	6
CAMTA1	23261	broad.mit.edu	37	1	7724800	7724800	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:7724800C>T	ENST00000303635.7	+	9	2400	c.2193C>T	c.(2191-2193)ggC>ggT	p.G731G	CAMTA1_ENST00000439411.2_Silent_p.G731G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAAGCGCCGGCGGCGTCCCCA	0.672		NA	T	WWTR1	epitheliod hemangioendothelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													45	56	52			NA	NA	1		NA											NA				7724800		2203	4300	6503	SO:0001819	synonymous_variant			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735	23261	23261			18806	protein-coding gene	gene with protein product		611501			NA	11925432	Standard	NM_015215	NM_001195563	NA	Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2193C>T	1.37:g.7724800C>T		NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37	CCDS30576.1																																																																																			CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003588.3		+	ENST00000303635.7	Silent	SNP	1 : 7724800 - 7724800 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	437	16
CAPNS2	84290	broad.mit.edu	37	16	55601209	55601209	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:55601209G>A	ENST00000457326.2	+	1	626	c.541G>A	c.(541-543)Gca>Aca	p.A181T	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	181	EF-hand 2.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TCTGCAGGCCGCAGGCTTCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	98	98			NA	NA	16		NA											NA				55601209		1879	4112	5991	SO:0001583	missense			AY052551	CCDS54010.1	16q12.2	2013-01-10					84290	84290		EF-hand domain containing	16371	protein-coding gene	gene with protein product					NA	11853546	Standard	NM_032330	NM_032330	NA	Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.541G>A	16.37:g.55601209G>A	ENSP00000400882:p.Ala181Thr	NA	Q9BPV4	37	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000256812	ENST00000457326	T	0.47869	0.83	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.77103	0.4081	M	0.91038	3.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.80799	-0.1221	9	0.72032	D	0.01	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	181	Q96L46	CPNS2_HUMAN	T	181	ENSP00000400882:A181T	ENSP00000400882:A181T	A	+	1	0	CAPNS2	54158710	1.000000	0.71417	0.986000	0.45419	0.931000	0.56810	8.752000	0.91632	2.835000	0.97688	0.650000	0.86243	GCA	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396391.1		+	ENST00000457326.2	Missense_Mutation	SNP	16 : 55601209 - 55601209 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	546	6
CCDC74B	91409	broad.mit.edu	37	2	130897862	130897862	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:130897862C>T	ENST00000310463.6	-	5	903	c.766G>A	c.(766-768)Gca>Aca	p.A256T	CCDC74B_ENST00000392984.3_Missense_Mutation_p.A358T|CCDC74B_ENST00000409943.3_Missense_Mutation_p.A190T	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	256										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGGGGGTGTGCCGCCGCCCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	106	104			NA	NA	2		NA											NA				130897862		2203	4300	6503	SO:0001583	missense				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076	91409	91409			25267	protein-coding gene	gene with protein product					NA		Standard	NM_207310	NM_001258307	NA	Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.766G>A	2.37:g.130897862C>T	ENSP00000308873:p.Ala256Thr	NA	Q6NW18	37	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	2.057	-0.416245	0.04766	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.25414	1.9;1.88;1.8	0.13	0.13	0.14746	.	0.341744	0.15643	U	0.251779	T	0.16685	0.0401	L	0.50333	1.59	0.09310	N	1	P;B;B	0.39424	0.673;0.012;0.017	B;B;B	0.32022	0.139;0.01;0.009	T	0.12167	-1.0558	9	0.32370	T	0.25	.	.	.	.	.	358;190;256	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	T	190;256;358	ENSP00000386294:A190T;ENSP00000308873:A256T;ENSP00000376710:A358T	ENSP00000308873:A256T	A	-	1	0	CCDC74B	130614332	0.018000	0.18449	0.009000	0.14445	0.048000	0.14542	-0.679000	0.05203	0.184000	0.20083	0.187000	0.17357	GCA	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254522.3		-	ENST00000310463.6	Missense_Mutation	SNP	2 : 130897862 - 130897862 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	920	7
CCDC80	151887	broad.mit.edu	37	3	112357638	112357638	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:112357638G>A	ENST00000206423.3	-	2	2068	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	CCDC80_ENST00000439685.2_Missense_Mutation_p.A372V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	372	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGTCTTGCAGCAACTGTTAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	71	75			NA	NA	3		NA											NA				112357638		2203	4300	6503	SO:0001583	missense			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986	151887	151887			30649	protein-coding gene	gene with protein product	steroid sensitive gene 1	608298			NA	15325258, 18178152	Standard	NM_199511	XM_005247135	NA	Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1115C>T	3.37:g.112357638G>A	ENSP00000206423:p.Ala372Val	NA	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814389	0.70912	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.49139	0.79;0.79	4.89	4.89	0.63831	.	0.110597	0.64402	D	0.000007	T	0.36936	0.0985	L	0.27053	0.805	0.80722	D	1	B;P;B	0.41393	0.419;0.748;0.295	B;B;B	0.37650	0.187;0.255;0.091	T	0.16100	-1.0414	10	0.30078	T	0.28	-7.3048	18.2349	0.89946	0.0:0.0:1.0:0.0	.	383;372;372	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	V	372	ENSP00000206423:A372V;ENSP00000411814:A372V	ENSP00000206423:A372V	A	-	2	0	CCDC80	113840328	0.994000	0.37717	0.108000	0.21378	0.034000	0.12701	5.501000	0.66950	2.535000	0.85469	0.555000	0.69702	GCT	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354219.1		-	ENST00000206423.3	Missense_Mutation	SNP	3 : 112357638 - 112357638 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	420	5
CEBPZ	10153	broad.mit.edu	37	2	37456107	37456107	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:37456107C>T	ENST00000234170.5	-	2	374	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	77					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TGAAGGTCATCGATTGCTCCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	70	73			NA	NA	2		NA											NA				37456107		2202	4300	6502	SO:0001583	missense			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816	10153	10153			24218	protein-coding gene	gene with protein product		612828			NA	2247079, 12534345	Standard	NM_005760	NM_005760	NA	Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.229G>A	2.37:g.37456107C>T	ENSP00000234170:p.Asp77Asn	NA	Q8NE75	37	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588983	0.66105	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02369	4.32;4.32	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.01988	-1.1234	10	0.87932	D	0	.	19.7248	0.96160	0.0:1.0:0.0:0.0	.	77	Q03701	CEBPZ_HUMAN	N	77;77;28	ENSP00000234170:D77N;ENSP00000391881:D28N	ENSP00000234170:D77N	D	-	1	0	CEBPZ	37309611	1.000000	0.71417	0.987000	0.45799	0.218000	0.24690	7.273000	0.78527	2.642000	0.89623	0.655000	0.94253	GAT	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218569.2		-	ENST00000234170.5	Missense_Mutation	SNP	2 : 37456107 - 37456107 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	211	9
CFD	1675	broad.mit.edu	37	19	861750	861750	+	Missense_Mutation	SNP	C	C	T	rs139666945	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:861750C>T	ENST00000327726.6	+	4	646	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	CFD_ENST00000592860.1_Missense_Mutation_p.R144C	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	137	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity				NA		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGGCAGCGCGTGGACCG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	6,4322		0,6,2158	15	14	14		409	1.6	0.5	19	dbSNP_134	14	0,8542		0,0,4271	no	missense	CFD	NM_001928.2	180	0,6,6429	TT,TC,CC	NA	0.0,0.1386,0.0466	probably-damaging	137/254	861750	6,12864	2164	4271	6435	SO:0001583	missense			M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766	1675	1675		Complement system	2771	protein-coding gene	gene with protein product		134350	D component of complement (adipsin), properdin factor D	DF, PFD	NA	1374388	Standard	NM_001928	NM_001928	NA	Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.409C>T	19.37:g.861750C>T	ENSP00000332139:p.Arg137Cys	NA	B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	37	CCDS12046.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.316929	0.40996	0.001386	0.0	ENSG00000197766	ENST00000327726	D	0.88896	-2.44	4.06	1.59	0.23543	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.527246	0.13683	U	0.370035	D	0.88966	0.6581	L	0.41492	1.28	0.42835	D	0.994032	D;D	0.89917	1.0;0.999	P;P	0.62089	0.898;0.885	D	0.86253	0.1650	10	0.66056	D	0.02	.	6.682	0.23125	0.277:0.6274:0.0:0.0956	.	144;137	A6XNE2;P00746	.;CFAD_HUMAN	C	137	ENSP00000332139:R137C	ENSP00000332139:R137C	R	+	1	0	CFD	812750	0.070000	0.21116	0.477000	0.27303	0.114000	0.19823	0.194000	0.17135	0.805000	0.34159	0.313000	0.20887	CGC	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457891.2		+	ENST00000327726.6	Missense_Mutation	SNP	19 : 861750 - 861750 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	113	7
CHERP	10523	broad.mit.edu	37	19	16634068	16634068	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:16634068C>T	ENST00000198939.6	-	11	1844	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.R592H			Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	592	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ATGAGGCATGCGGTGGCCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4190		0,0,2095	48	60	56		1775	5.1	1	19		56	1,8461		0,1,4230	no	missense	CHERP	NM_006387.5	29	0,1,6325	TT,TC,CC	NA	0.0118,0.0,0.0079	probably-damaging	592/917	16634068	1,12651	2095	4231	6326	SO:0001583	missense			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872	10523	10523		G patch domain containing	16930	protein-coding gene	gene with protein product					NA	8896557, 10794731	Standard	NM_006387	NM_006387	NA	Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1808G>A	19.37:g.16634068C>T	ENSP00000198939:p.Arg603His	NA	O00302|Q4G0Y5|Q8WU30|Q99492	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.035077	0.93575	0.0	1.18E-4	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.26067	1.76;1.76	5.09	5.09	0.68999	.	.	.	.	.	T	0.45716	0.1356	L	0.47716	1.5	0.53688	D	0.999971	D	0.76494	0.999	D	0.76071	0.987	T	0.38520	-0.9657	9	0.59425	D	0.04	-24.2726	17.4823	0.87675	0.0:1.0:0.0:0.0	.	592	Q8IWX8	CHERP_HUMAN	H	592;603	ENSP00000439856:R592H;ENSP00000198939:R603H	ENSP00000198939:R603H	R	-	2	0	CHERP	16495068	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.136000	0.77285	2.377000	0.81083	0.561000	0.74099	CGC	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403372.1		-	ENST00000198939.6	Missense_Mutation	SNP	19 : 16634068 - 16634068 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	589	6
COG8	84342	broad.mit.edu	37	16	69368827	69368827	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:69368827C>T	ENST00000306875.4	-	3	1124	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	COG8_ENST00000562081.1_Missense_Mutation_p.G337D	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	337					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCCGCCTATGCCCCGGTAAAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	55	56			NA	NA	16		NA											NA				69368827		2198	4300	6498	SO:0001583	missense			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380	84342	84342		Components of oligomeric golgi complex	18623	protein-coding gene	gene with protein product		606979			NA	11980916	Standard	NM_032382	NM_032382	NA	Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1010G>A	16.37:g.69368827C>T	ENSP00000305459:p.Gly337Asp	NA	Q0VAK2|Q8WVV6|Q9H6F8	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255165	0.80135	.	.	ENSG00000213380	ENST00000306875	T	0.43688	0.94	5.93	5.93	0.95920	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	L	0.48935	1.535	0.80722	D	1	B;B	0.34103	0.437;0.437	B;B	0.41174	0.349;0.349	T	0.15578	-1.0432	10	0.12430	T	0.62	-3.5502	20.3363	0.98740	0.0:1.0:0.0:0.0	.	364;337	B4DYU2;Q96MW5	.;COG8_HUMAN	D	337	ENSP00000305459:G337D	ENSP00000305459:G337D	G	-	2	0	COG8	67926328	1.000000	0.71417	0.556000	0.28293	0.972000	0.66771	7.441000	0.80485	2.814000	0.96858	0.563000	0.77884	GGC	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268948.2		-	ENST00000306875.4	Missense_Mutation	SNP	16 : 69368827 - 69368827 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	435	5
DCLRE1C	64421	broad.mit.edu	37	10	14976718	14976718	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:14976718T>C	ENST00000378289.4	-	7	942	c.521A>G	c.(520-522)tAc>tGc	p.Y174C	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y54C			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	174					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TGGAATTTGGTAAAATCTTGG	0.398		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	139	141			NA	NA	10		NA											NA				14976718		2203	4300	6503	SO:0001583	missense			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457	64421	64421			17642	protein-coding gene	gene with protein product	PSO2 homolog (S. cerevisiae)	605988	severe combined immunodeficiency, type a (Athabascan), DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)	SCIDA	NA	11336668, 9443881	Standard	NM_022487	XM_005252558	NA	Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378289.4:c.521A>G	10.37:g.14976718T>C	ENSP00000367538:p.Tyr174Cys	NA	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	37		.	.	.	.	.	.	.	.	.	.	T	17.20	3.328605	0.60743	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843;ENST00000378241	T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.23;-0.76;-0.77;-0.77;-0.77;-0.76;-0.76;-0.76;-1.34;-0.76;-1.37;-0.76	4.85	3.7	0.42460	Beta-lactamase-like (1);	0.055752	0.85682	D	0.000000	D	0.85600	0.5734	M	0.64997	1.995	0.48830	D	0.999716	P;D;P	0.69078	0.893;0.997;0.937	P;D;P	0.63033	0.753;0.91;0.762	D	0.85634	0.1272	10	0.72032	D	0.01	.	11.1815	0.48631	0.1379:0.0:0.0:0.8621	.	174;59;174	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	C	174;54;59;59;59;54;54;54;174;54;28;54	ENSP00000367538:Y174C;ENSP00000400529:Y54C;ENSP00000367492:Y59C;ENSP00000350349:Y59C;ENSP00000367496:Y59C;ENSP00000380030:Y54C;ENSP00000367503:Y54C;ENSP00000367502:Y54C;ENSP00000367527:Y174C;ENSP00000367506:Y54C;ENSP00000391428:Y28C;ENSP00000367487:Y54C	ENSP00000350349:Y59C	Y	-	2	0	DCLRE1C	15016724	1.000000	0.71417	0.989000	0.46669	0.750000	0.42670	4.892000	0.63193	0.785000	0.33685	-0.309000	0.09137	TAC	DCLRE1C-008	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000046933.1		-	ENST00000378289.4	Missense_Mutation	SNP	10 : 14976718 - 14976718 C PAAD-TCGA-US-A774-Tumor-SM-4WPAA	876	46
DDX23	9416	broad.mit.edu	37	12	49224974	49224974	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49224974G>C	ENST00000308025.3	-	16	2269	c.2190C>G	c.(2188-2190)atC>atG	p.I730M		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	730	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACATCTTGGATGTCAATAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	150	155			NA	NA	12		NA											NA				49224974		2203	4300	6503	SO:0001583	missense			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243	9416	9416		DEAD-boxes	17347	protein-coding gene	gene with protein product		612172	PRP28 homolog, yeast		NA	9409622, 9539711	Standard	NM_004818	NM_004818	NA	Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2190C>G	12.37:g.49224974G>C	ENSP00000310723:p.Ile730Met	NA	B2R600|O43188	37	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471899	0.63737	.	.	ENSG00000174243	ENST00000308025	T	0.78816	-1.21	5.75	0.262	0.15597	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87803	0.6269	M	0.90595	3.13	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.87059	0.2152	10	0.87932	D	0	-13.0005	10.1741	0.42929	0.4713:0.0:0.5287:0.0	.	730	Q9BUQ8	DDX23_HUMAN	M	730	ENSP00000310723:I730M	ENSP00000310723:I730M	I	-	3	3	DDX23	47511241	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.010000	0.29898	0.103000	0.17682	0.655000	0.94253	ATC	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408897.2		-	ENST00000308025.3	Missense_Mutation	SNP	12 : 49224974 - 49224974 C PAAD-TCGA-US-A774-Tumor-SM-4WPAA	746	6
DHX32	55760	broad.mit.edu	37	10	127540897	127540897	+	Missense_Mutation	SNP	G	G	A	rs143704757		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:127540897G>A	ENST00000284690.3	-	6	1806	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	DHX32_ENST00000368721.1_Missense_Mutation_p.A63V|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.A358V	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	439						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCTAGGCCCGCAATGTCTAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,VAL/ALA	0,4406		0,0,2203	153	141	145		,1316	5.7	1	10	dbSNP_134	145	4,8596	3.7+/-12.6	0,4,4296	yes	intron,missense	DHX32,BCCIP	NM_016567.3,NM_018180.2	,64	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	,probably-damaging	,439/744	127540897	4,13002	2203	4300	6503	SO:0001583	missense				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876	55760	55760		DEAH-boxes	16717	protein-coding gene	gene with protein product		607960	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	DDX32	NA		Standard	NM_018180	NM_018180	NA	Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1316C>T	10.37:g.127540897G>A	ENSP00000284690:p.Ala439Val	NA	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067881	0.93950	0.0	4.65E-4	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.18016	2.24;3.99;3.72	5.72	5.72	0.89469	.	0.056069	0.64402	D	0.000001	T	0.39517	0.1081	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.939;0.996	T	0.06162	-1.0842	10	0.87932	D	0	-28.254	18.885	0.92372	0.0:0.0:1.0:0.0	.	358;439	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	V	63;439;358	ENSP00000357710:A63V;ENSP00000284690:A439V;ENSP00000284688:A358V	ENSP00000284688:A358V	A	-	2	0	DHX32	127530887	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	7.429000	0.80309	2.691000	0.91804	0.655000	0.94253	GCG	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050945.2		-	ENST00000284690.3	Missense_Mutation	SNP	10 : 127540897 - 127540897 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	228	5
DNM1L	10059	broad.mit.edu	37	12	32884346	32884346	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:32884346G>A	ENST00000452533.2	+	11	1421	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000266481.6_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000381000.4_Silent_p.R432R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	115	113			NA	NA	12		NA											NA				32884346		2203	4300	6503	SO:0001819	synonymous_variant			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470	10059	10059			2973	protein-coding gene	gene with protein product		603850			NA	9348079, 9731200	Standard	NM_012062	NM_012062	NA	Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000452533.2:c.1257G>A	12.37:g.32884346G>A		NA	A8K4X9|B4DSU8|O14541|O60709|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	37	CCDS8730.1																																																																																			DNM1L-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404122.1		+	ENST00000452533.2	Silent	SNP	12 : 32884346 - 32884346 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	472	5
DPP4	1803	broad.mit.edu	37	2	162875264	162875264	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:162875264C>T	ENST00000360534.3	-	16	1955	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.A465A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GATAATACTTCGCCTCTTTAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(2)											128	116	120			NA	NA	2		NA											NA				162875264		2203	4300	6503	SO:0001819	synonymous_variant			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	1803	1803	3.4.14.5	CD molecules	3009	protein-coding gene	gene with protein product		102720	dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2), adenosine deaminase complexing protein 2	CD26, ADCP2	NA	8101391	Standard		NM_001935	NA	Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1395G>A	2.37:g.162875264C>T		NA	Q53TN1	37	CCDS2216.1																																																																																			DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255079.2		-	ENST00000360534.3	Silent	SNP	2 : 162875264 - 162875264 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	407	17
DRAP1	10589	broad.mit.edu	37	11	65687891	65687891	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:65687891A>G	ENST00000312515.2	+	4	532	c.287A>G	c.(286-288)gAc>gGc	p.D96G	DRAP1_ENST00000376991.2_Missense_Mutation_p.D96G|DRAP1_ENST00000532933.1_Missense_Mutation_p.D76G|DRAP1_ENST00000527119.1_Missense_Mutation_p.D52G	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	96					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		ATGCAGGGGGACGGGGAAGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	79	76			NA	NA	11		NA											NA				65687891		2201	4296	6497	SO:0001583	missense			U41843	CCDS8123.1	11q13	2010-09-29			ENSG00000175550	ENSG00000175550	10589	10589			3019	protein-coding gene	gene with protein product	negative cofactor 2 alpha, DR1-associated corepressor	602289			NA	8608938	Standard	NM_006442	NM_006442	NA	Approved	NC2-alpha	uc001ogj.2	Q14919	OTTHUMG00000166723	ENST00000312515.2:c.287A>G	11.37:g.65687891A>G	ENSP00000307850:p.Asp96Gly	NA	Q13448	37	CCDS8123.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831383	0.50845	.	.	ENSG00000175550	ENST00000312515;ENST00000525501;ENST00000376991;ENST00000527119;ENST00000532933	.	.	.	4.33	4.33	0.51752	Histone-fold (1);	0.062082	0.64402	D	0.000008	T	0.48786	0.1519	L	0.48642	1.525	0.58432	D	0.999999	B	0.34015	0.435	B	0.32393	0.145	T	0.51332	-0.8719	9	0.44086	T	0.13	-6.8611	11.7748	0.51979	1.0:0.0:0.0:0.0	.	96	Q14919	NC2A_HUMAN	G	96;57;96;52;76	.	ENSP00000307850:D96G	D	+	2	0	DRAP1	65444467	1.000000	0.71417	0.926000	0.36857	0.587000	0.36485	8.228000	0.89789	1.744000	0.51775	0.533000	0.62120	GAC	DRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391197.2		+	ENST00000312515.2	Missense_Mutation	SNP	11 : 65687891 - 65687891 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	680	6
EEF2	1938	broad.mit.edu	37	19	3982349	3982349	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:3982349G>A	ENST00000309311.6	-	5	774	c.686C>T	c.(685-687)gCc>gTc	p.A229V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	229						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACATCTCGGCAAACTGCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(165;1804 1908 4071 6587 18799)							NA				0													80	80	80			NA	NA	19		NA											NA				3982349		2203	4300	6503	SO:0001583	missense			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658	1938	1938			3214	protein-coding gene	gene with protein product	polypeptidyl-tRNA translocase	130610		EF2	NA	2610926, 6427766	Standard	NM_001961	NM_001961	NA	Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.686C>T	19.37:g.3982349G>A	ENSP00000307940:p.Ala229Val	NA	B2RMP5|D6W618|Q58J86	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038606	0.93630	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.29142	1.58	5.81	4.78	0.61160	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.87097	2.86	0.80722	D	1	P	0.45348	0.856	P	0.50270	0.636	T	0.61267	-0.7097	10	0.87932	D	0	-12.7913	13.9308	0.63994	0.0728:0.0:0.9272:0.0	.	229	P13639	EF2_HUMAN	V	229	ENSP00000307940:A229V	ENSP00000307940:A229V	A	-	2	0	EEF2	3933349	1.000000	0.71417	0.069000	0.20011	0.905000	0.53344	9.808000	0.99193	1.469000	0.48083	0.561000	0.74099	GCC	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457615.2		-	ENST00000309311.6	Missense_Mutation	SNP	19 : 3982349 - 3982349 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	366	5
EGR3	1960	broad.mit.edu	37	8	22548167	22548167	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:22548167G>A	ENST00000317216.2	-	2	1340	c.983C>T	c.(982-984)aCg>aTg	p.T328M	EGR3_ENST00000522910.1_Missense_Mutation_p.T290M|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	328					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CTTCTCGCCCGTATGAGTGCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	70	70			NA	NA	8		NA											NA				22548167		2203	4300	6503	SO:0001583	missense			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388	1960	1960		Zinc fingers, C2H2-type	3240	protein-coding gene	gene with protein product	zinc finger protein pilot	602419			NA	1906159, 11909874	Standard	NM_004430	NM_004430	NA	Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.983C>T	8.37:g.22548167G>A	ENSP00000318057:p.Thr328Met	NA	A8K8U9|Q2M3W2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098407	0.76870	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.26373	1.74;1.74	5.62	5.62	0.85841	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57242	-0.7845	10	0.87932	D	0	-20.0694	17.1549	0.86788	0.0:0.0:1.0:0.0	.	290;328	E7EW38;Q06889	.;EGR3_HUMAN	M	328;290;169	ENSP00000318057:T328M;ENSP00000430310:T290M	ENSP00000318057:T328M	T	-	2	0	EGR3	22604112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.863000	0.99569	2.643000	0.89663	0.655000	0.94253	ACG	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215098.1		-	ENST00000317216.2	Missense_Mutation	SNP	8 : 22548167 - 22548167 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	653	6
EIF2D	1939	broad.mit.edu	37	1	206773158	206773158	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:206773158C>T	ENST00000271764.2	-	9	1189	c.981G>A	c.(979-981)gaG>gaA	p.E327E	EIF2D_ENST00000367114.3_Silent_p.E203E	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	327					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTATAATCTGCTCCTGCTGCA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	106	112			NA	NA	1		NA											NA				206773158		2203	4300	6503	SO:0001819	synonymous_variant			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486	1939	1939			6583	protein-coding gene	gene with protein product		613709			NA	20566627	Standard	NM_006893	NM_001201478	NA	Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.981G>A	1.37:g.206773158C>T		NA	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	37	CCDS1465.1																																																																																			EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088475.1		-	ENST00000271764.2	Silent	SNP	1 : 206773158 - 206773158 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	508	33
EIF3A	8661	broad.mit.edu	37	10	120802027	120802027	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:120802027G>A	ENST00000369144.3	-	19	3132	c.3005C>T	c.(3004-3006)gCc>gTc	p.A1002V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A968V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1002	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCTTCATCGGCAATTCGTCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	191	208			NA	NA	10		NA											NA				120802027		2203	4300	6503	SO:0001583	missense			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581	8661	8661			3271	protein-coding gene	gene with protein product		602039	eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa	EIF3, EIF3S10	NA	9054404, 8590280	Standard	NM_003750	NM_003750	NA	Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3005C>T	10.37:g.120802027G>A	ENSP00000358140:p.Ala1002Val	NA	B1AMV5|O00653|Q15778	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813600	0.02798	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.23950	1.88;1.88	6.17	1.77	0.24775	.	0.466770	0.15686	N	0.249646	T	0.22781	0.0550	L	0.55990	1.75	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.0	T	0.19484	-1.0304	10	0.30854	T	0.27	-8.0023	9.4858	0.38928	0.3191:0.4754:0.2056:0.0	.	968;1002	F5H335;Q14152	.;EIF3A_HUMAN	V	1002;968	ENSP00000358140:A1002V;ENSP00000438178:A968V	ENSP00000358140:A1002V	A	-	2	0	EIF3A	120792017	0.000000	0.05858	0.061000	0.19648	0.196000	0.23810	-0.233000	0.09041	0.433000	0.26313	-0.165000	0.13383	GCC	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050634.1		-	ENST00000369144.3	Missense_Mutation	SNP	10 : 120802027 - 120802027 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	839	6
EXOSC4	54512	broad.mit.edu	37	8	145134931	145134931	+	Missense_Mutation	SNP	G	G	A	rs139537728		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:145134931G>A	ENST00000525936.1	+	2	331				EXOSC4_ENST00000316052.5_Missense_Mutation_p.R86H			Q9NPD3	EXOS4_HUMAN	exosome component 4	NA					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGTGAGCGCAAGCGACGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	83	84			NA	NA	8		NA											NA				145134931		2203	4300	6503	SO:0001627	intron_variant			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896	54512	54512			18189	protein-coding gene	gene with protein product	exosome component Rrp41	606491			NA	11110791	Standard	NM_019037	NM_019037	NA	Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000525936.1:c.250+7G>A	8.37:g.145134931G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	34	5.351420	0.95830	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.69306	-0.39;-0.39	5.05	5.05	0.67936	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.84826	0.5558	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88237	0.2907	10	0.87932	D	0	-22.2698	15.8797	0.79195	0.0:0.0:1.0:0.0	.	86	Q9NPD3	EXOS4_HUMAN	H	86;109	ENSP00000315476:R86H;ENSP00000436539:R109H	ENSP00000315476:R86H	R	+	2	0	EXOSC4	145206919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.214000	0.95140	2.345000	0.79718	0.561000	0.74099	CGC	EXOSC4-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384066.1		+	ENST00000525936.1	Intron	SNP	8 : 145134931 - 145134931 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	638	6
FAM127B	26071	broad.mit.edu	37	X	134186027	134186027	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:134186027C>T	ENST00000370775.2	-	1	178	c.112G>A	c.(112-114)Gac>Aac	p.D38N	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	38										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					GGGAGTCGGTCGGTATCTCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	95	94			NA	NA	X		NA											NA				134186027		2114	4210	6324	SO:0001583	missense			AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950	26071	26071			24514	protein-coding gene	gene with protein product					NA	9403077, 15716091	Standard	NM_001078172	NM_001078172	NA	Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.112G>A	X.37:g.134186027C>T	ENSP00000375267:p.Asp38Asn	NA	A2A2V9|Q8TBU2	37	CCDS43998.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171400	0.38315	.	.	ENSG00000203950	ENST00000370775	T	0.31247	1.5	2.38	2.38	0.29361	.	0.509400	0.14388	U	0.322689	T	0.41305	0.1153	L	0.50333	1.59	0.27449	N	0.953491	D;D	0.76494	0.999;0.993	D;P	0.74023	0.982;0.619	T	0.18461	-1.0336	10	0.17369	T	0.5	.	7.511	0.27573	0.0:1.0:0.0:0.0	.	36;38	Q6IPB9;Q9BWD3	.;F127B_HUMAN	N	38	ENSP00000375267:D38N	ENSP00000375267:D38N	D	-	1	0	FAM127B	134013693	1.000000	0.71417	0.995000	0.50966	0.112000	0.19704	2.055000	0.41345	1.470000	0.48102	0.292000	0.19580	GAC	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058393.2		-	ENST00000370775.2	Missense_Mutation	SNP	X : 134186027 - 134186027 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	724	15
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	102	92			NA	NA	9		NA											NA				117757		2179	4281	6460	SO:0001819	synonymous_variant			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122	2298	2298		Forkhead boxes	3805	protein-coding gene	gene with protein product		601092		FKHL9	NA	7957066, 8825632, 12234674	Standard	NM_207305	NM_207305	NA	Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.363G>A	9.37:g.117757C>T		NA	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	37	CCDS34975.1																																																																																			FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055433.1		-	ENST00000382500.2	Silent	SNP	9 : 117757 - 117757 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1348	8
GPR158	57512	broad.mit.edu	37	10	25510077	25510077	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:25510077C>A	ENST00000376351.3	+	2	1358	c.999C>A	c.(997-999)aaC>aaA	p.N333K		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	333						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCACCTCAACAATTCAGAGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	89	89			NA	NA	10		NA											NA				25510077		2203	4300	6503	SO:0001583	missense			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025	57512	57512		GPCR / Class C : Orphans	23689	protein-coding gene	gene with protein product		614573			NA		Standard	XM_166110	NM_020752	NA	Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.999C>A	10.37:g.25510077C>A	ENSP00000365529:p.Asn333Lys	NA	Q6QR81|Q9ULT3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842654	0.51057	.	.	ENSG00000151025	ENST00000376351	T	0.59906	0.23	5.37	3.51	0.40186	.	0.157867	0.42053	D	0.000778	T	0.66877	0.2834	L	0.49640	1.575	0.39032	D	0.959954	D	0.67145	0.996	D	0.65684	0.937	T	0.65845	-0.6069	10	0.46703	T	0.11	.	11.8361	0.52325	0.0:0.7809:0.0:0.2191	.	333	Q5T848	GP158_HUMAN	K	333	ENSP00000365529:N333K	ENSP00000365529:N333K	N	+	3	2	GPR158	25550083	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.005000	0.29834	0.266000	0.21894	-1.119000	0.02030	AAC	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047248.2		+	ENST00000376351.3	Missense_Mutation	SNP	10 : 25510077 - 25510077 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	260	14
GPRASP2	114928	broad.mit.edu	37	X	101972217	101972217	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:101972217C>T	ENST00000535209.1	+	4	3251	c.2420C>T	c.(2419-2421)cCg>cTg	p.P807L	GPRASP2_ENST00000332262.5_Missense_Mutation_p.P807L|GPRASP2_ENST00000543253.1_Missense_Mutation_p.P807L					G protein-coupled receptor associated sorting protein 2	NA										breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGTCTTGAGCCGCTTATTTCT	0.318		NA											C	0	0	NA	NA	1659	NA	1	,	,	NA	1e-04	NA	NA	NA	0	0.05	LOWCOV	NA	NA	9e-04	SNP								NA				0													122	130	127			NA	NA	X		NA											NA				101972217		2203	4296	6499	SO:0001583	missense			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301	114928	114928		Armadillo repeat containing	25169	protein-coding gene	gene with protein product					NA	15086532, 16221301	Standard	NM_138437	NM_138437	NA	Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2420C>T	X.37:g.101972217C>T	ENSP00000437394:p.Pro807Leu	NA		37	CCDS14501.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.349	1.065104	0.20067	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.28255	1.62;1.62;1.62	4.04	3.16	0.36331	Armadillo-type fold (1);	0.000000	0.41712	D	0.000830	T	0.48677	0.1513	M	0.65975	2.015	0.18873	N	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.27054	-1.0085	10	0.72032	D	0.01	-5.9426	8.0819	0.30750	0.2402:0.7598:0.0:0.0	.	807	Q96D09	GASP2_HUMAN	L	807	ENSP00000437872:P807L;ENSP00000437394:P807L;ENSP00000339057:P807L	ENSP00000339057:P807L	P	+	2	0	GPRASP2	101858873	0.860000	0.29831	0.078000	0.20375	0.454000	0.32378	2.912000	0.48782	1.042000	0.40150	0.513000	0.50165	CCG	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057626.2		+	ENST00000535209.1	Missense_Mutation	SNP	X : 101972217 - 101972217 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	816	23
HEXIM1	10614	broad.mit.edu	37	17	43227508	43227508	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:43227508C>T	ENST00000332499.2	+	1	2825	c.951C>T	c.(949-951)ggC>ggT	p.G317G		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	317	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCTGGGTGGCGACGACGCGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	52	49			NA	NA	17		NA											NA				43227508		2203	4299	6502	SO:0001819	synonymous_variant			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834	10614	10614			24953	protein-coding gene	gene with protein product		607328			NA	12119119, 12832472	Standard	NM_006460	NM_006460	NA	Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.951C>T	17.37:g.43227508C>T		NA	B2R8Y5	37	CCDS11495.1																																																																																			HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449821.2		+	ENST00000332499.2	Silent	SNP	17 : 43227508 - 43227508 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	617	6
HHIPL2	79802	broad.mit.edu	37	1	222696153	222696153	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:222696153G>A	ENST00000343410.6	-	9	2023	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	655					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTGGGCTGGGCCAGAAGCTA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	114	112			NA	NA	1		NA											NA				222696153		2203	4300	6503	SO:0001819	synonymous_variant			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512	79802	79802			25842	protein-coding gene	gene with protein product			KIAA1822-like	KIAA1822L	NA	12975309	Standard	NM_024746	NM_024746	NA	Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1965C>T	1.37:g.222696153G>A		NA	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	37	CCDS1530.2																																																																																			HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091499.2		-	ENST00000343410.6	Silent	SNP	1 : 222696153 - 222696153 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	793	6
HIST1H3I	8354	broad.mit.edu	37	6	27839741	27839741	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:27839741A>C	ENST00000328488.2	-	1	358	c.353T>G	c.(352-354)gTc>gGc	p.V118G		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	118					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATAATAGTGACGCGTTTGGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	141	137			NA	NA	6		NA											NA				27839741		2203	4300	6503	SO:0001583	missense			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379	8354	8354		Histones / Replication-dependent	4771	protein-coding gene	gene with protein product		602814	H3 histone family, member F, histone 1, H3i	H3FF	NA	9031620, 9439656, 12408966	Standard	NM_003533	NM_003533	NA	Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.353T>G	6.37:g.27839741A>C	ENSP00000329554:p.Val118Gly	NA	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	37	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744292	0.49151	.	.	ENSG00000182572	ENST00000328488	T	0.50277	0.75	4.12	4.12	0.48240	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59910	-0.7365	6	0.87932	D	0	.	13.3331	0.60500	1.0:0.0:0.0:0.0	.	.	.	.	G	118	ENSP00000329554:V118G	ENSP00000329554:V118G	V	-	2	0	HIST1H3I	27947720	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	8.793000	0.91862	2.086000	0.62901	0.528000	0.53228	GTC	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043452.1		-	ENST00000328488.2	Missense_Mutation	SNP	6 : 27839741 - 27839741 C PAAD-TCGA-US-A774-Tumor-SM-4WPAA	933	53
HMCN1	83872	broad.mit.edu	37	1	186024700	186024700	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:186024700C>T	ENST00000271588.4	+	45	7267	c.7038C>T	c.(7036-7038)caC>caT	p.H2346H	HMCN1_ENST00000367492.2_Silent_p.H2346H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2346	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGAAGGTCACATCCTTCAGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	129	137			NA	NA	1		NA											NA				186024700		2203	4300	6503	SO:0001819	synonymous_variant			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7038C>T	1.37:g.186024700C>T		NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1																																																																																			HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Silent	SNP	1 : 186024700 - 186024700 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	452	23
HRNR	388697	broad.mit.edu	37	1	152191731	152191731	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:152191731C>T	ENST00000368801.2	-	3	2449	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	792					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGGCCGTGGCTGGAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	73	72			NA	NA	1		NA											NA				152191731		2203	4300	6503	SO:0001583	missense			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915	388697	388697		EF-hand domain containing	20846	protein-coding gene	gene with protein product	filaggrin family member 3				NA		Standard	XM_373868	NM_001009931	NA	Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2374G>A	1.37:g.152191731C>T	ENSP00000357791:p.Gly792Ser	NA	Q5U1F4	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.079	0.569916	0.13560	.	.	ENSG00000197915	ENST00000368801	T	0.05382	3.45	2.54	0.333	0.15943	.	.	.	.	.	T	0.01092	0.0036	L	0.36672	1.1	0.09310	N	1	P	0.41978	0.767	B	0.31245	0.126	T	0.48031	-0.9070	9	0.23891	T	0.37	.	4.4579	0.11652	0.0:0.5922:0.0:0.4078	.	792	Q86YZ3	HORN_HUMAN	S	792	ENSP00000357791:G792S	ENSP00000357791:G792S	G	-	1	0	HRNR	150458355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.666000	0.05280	-0.051000	0.13334	0.456000	0.33151	GGC	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034016.1		-	ENST00000368801.2	Missense_Mutation	SNP	1 : 152191731 - 152191731 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	292	10
ITGA4	3676	broad.mit.edu	37	2	182358062	182358062	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:182358062C>T	ENST00000397033.2	+	11	1594	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	388					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGTTGCTATCGGAGCTCCAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	90	92			NA	NA	2		NA											NA				182358062		1849	4095	5944	SO:0001819	synonymous_variant				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232	3676	3676		CD molecules, Integrins	6140	protein-coding gene	gene with protein product		192975		CD49D	NA	1537388	Standard		NM_000885	NA	Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1164C>T	2.37:g.182358062C>T		NA	D3DPG4	37	CCDS42788.1																																																																																			ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334427.1		+	ENST00000397033.2	Silent	SNP	2 : 182358062 - 182358062 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	356	8
KCNH5	27133	broad.mit.edu	37	14	63511901	63511901	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:63511901G>A	ENST00000322893.7	-	1	272	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394968.1_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	2					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCCCCCCGGCATCCTGGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	47	49			NA	NA	14		NA											NA				63511901		2203	4300	6503	SO:0001583	missense			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015	27133	27133		Potassium channels, Voltage-gated ion channels / Potassium channels	6254	protein-coding gene	gene with protein product		605716			NA	9738473, 16382104	Standard	NM_139318	NM_139318	NA	Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.4C>T	14.37:g.63511901G>A	ENSP00000321427:p.Pro2Ser	NA		37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743568	0.69418	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.98876	-5.2;-5.06	5.23	5.23	0.72850	.	0.052087	0.85682	D	0.000000	D	0.98248	0.9420	M	0.72118	2.19	0.80722	D	1	P;P	0.37548	0.538;0.599	P;B	0.44359	0.447;0.103	D	0.99806	1.1038	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	2;2	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	S	2	ENSP00000321427:P2S;ENSP00000395439:P2S	ENSP00000321427:P2S	P	-	1	0	KCNH5	62581654	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.118000	0.89577	2.611000	0.88343	0.563000	0.77884	CCG	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411747.1		-	ENST00000322893.7	Missense_Mutation	SNP	14 : 63511901 - 63511901 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	260	5
KCNJ4	3761	broad.mit.edu	37	22	38824115	38824115	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:38824115C>T	ENST00000303592.3	-	2	281	c.23G>A	c.(22-24)gGc>gAc	p.G8D		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	8					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGCCTGGCCGTTGCGGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	172	178			NA	NA	22		NA											NA				38824115		2203	4299	6502	SO:0001583	missense			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135	3761	3761		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6265	protein-coding gene	gene with protein product		600504			NA	8016146, 16382105	Standard	NM_004981	NM_152868	NA	Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.23G>A	22.37:g.38824115C>T	ENSP00000306497:p.Gly8Asp	NA	Q14D44	37	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251905	0.59212	.	.	ENSG00000168135	ENST00000303592	D	0.89415	-2.51	4.4	4.4	0.53042	.	0.157281	0.22830	U	0.055117	D	0.92580	0.7643	M	0.76838	2.35	0.53005	D	0.999963	D	0.63880	0.993	P	0.54401	0.751	D	0.93281	0.6660	10	0.52906	T	0.07	.	17.4411	0.87565	0.0:1.0:0.0:0.0	.	8	P48050	IRK4_HUMAN	D	8	ENSP00000306497:G8D	ENSP00000306497:G8D	G	-	2	0	KCNJ4	37154061	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.571000	0.82399	2.182000	0.69389	0.555000	0.69702	GGC	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321447.1		-	ENST00000303592.3	Missense_Mutation	SNP	22 : 38824115 - 38824115 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1532	8
KCNN3	3782	broad.mit.edu	37	1	154841843	154841843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:154841843C>A	ENST00000271915.4	-	1	913	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	NA						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTCTCGGCCTCGATGAGGTTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	47	46			NA	NA	1		NA											NA				154841843		2203	4300	6503	SO:0001587	stop_gained			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603	3782	3782		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	6292	protein-coding gene	gene with protein product		602983			NA	9491810, 16382103	Standard	NM_002249	NM_002249	NA	Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.598G>T	1.37:g.154841843C>A	ENSP00000271915:p.Glu200*	NA	B1ANX0|O43517|Q8WXG7	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	40	8.086447	0.98646	.	.	ENSG00000143603	ENST00000271915	.	.	.	4.75	4.75	0.60458	.	0.000000	0.44285	D	0.000468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.4109	15.2796	0.73770	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000271915:E200X	E	-	1	0	KCNN3	153108467	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.750000	0.68712	2.461000	0.83175	0.561000	0.74099	GAG	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090688.3		-	ENST00000271915.4	Nonsense_Mutation	SNP	1 : 154841843 - 154841843 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	448	7
KMT2D	8085	broad.mit.edu	37	12	49427369	49427369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49427369G>A	ENST00000301067.7	-	39	11118	c.11119C>T	c.(11119-11121)Cga>Tga	p.R3707*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						CCGAGGCTTCGAAGAGCAAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	55	52			NA	NA	12		NA											NA				49427369		2090	4228	6318	SO:0001587	stop_gained			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	8085	8085		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7133	protein-coding gene	gene with protein product		602113	trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2	TNRC21, MLL2	NA	9247308	Standard		NM_003482	NA	Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11119C>T	12.37:g.49427369G>A	ENSP00000301067:p.Arg3707*	NA		37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	52	18.834729	0.99911	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.11	5.11	0.69529	.	0.000000	0.30060	N	0.010503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3973	0.83613	0.0:0.0:1.0:0.0	.	.	.	.	X	3707	.	ENSP00000301067:R3707X	R	-	1	2	MLL2	47713636	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.116000	0.64661	2.547000	0.85894	0.462000	0.41574	CGA	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Nonsense_Mutation	SNP	12 : 49427369 - 49427369 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	426	7
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	96	5
KRTAP10-5	386680	broad.mit.edu	37	21	45999888	45999888	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:45999888G>A	ENST00000400372.1	-	1	593	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	190	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGCAGACGGGCACACAGCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	191	189			NA	NA	21		NA											NA				45999888		2203	4300	6503	SO:0001583	missense			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123	386680	386680		Keratin associated proteins	22969	protein-coding gene	gene with protein product				KRTAP18-5	NA		Standard		NM_198694	NA	Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.568C>T	21.37:g.45999888G>A	ENSP00000383223:p.Pro190Ser	NA	Q0VAR7|Q0VAR8|Q70LJ3	37	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	6.527	0.465563	0.12402	.	.	ENSG00000241123	ENST00000400372	T	0.01279	5.06	2.02	1.07	0.20283	.	.	.	.	.	T	0.04815	0.0130	L	0.53249	1.67	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.38394	-0.9663	9	0.45353	T	0.12	.	7.3404	0.26633	0.0:0.0:0.737:0.263	.	190	P60370	KR105_HUMAN	S	190	ENSP00000383223:P190S	ENSP00000383223:P190S	P	-	1	0	KRTAP10-5	44824316	0.002000	0.14202	0.001000	0.08648	0.036000	0.12997	0.039000	0.13884	0.163000	0.19507	0.305000	0.20034	CCC	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128042.1		-	ENST00000400372.1	Missense_Mutation	SNP	21 : 45999888 - 45999888 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1250	7
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	97	107			NA	NA	X		NA											NA				153134383		2203	4300	6503	SO:0001583	missense			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910	3897	3897		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	6470	protein-coding gene	gene with protein product		308840	antigen identified by monoclonal antibody R1	HSAS1, SPG1, HSAS, MASA, MIC5, S10	NA		Standard	NM_024003	NM_001278116	NA	Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val	NA	A0AV65|B2RMU7|Q8TA87	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061094.2		-	ENST00000370060.1	Missense_Mutation	SNP	X : 153134383 - 153134383 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	494	6
LCT	3938	broad.mit.edu	37	2	136575286	136575286	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCGGAGGCCGCAAAGCAGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	69	65	66		1332	-11.5	0	2		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		444/1928	136575286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3938	3938	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202			NA		Standard	NM_002299	NM_002299	NA	Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1332C>T	2.37:g.136575286G>A		NA	Q4ZG58	37	CCDS2178.1																																																																																			LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254657.1		-	ENST00000264162.2	Silent	SNP	2 : 136575286 - 136575286 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	492	5
LPAR3	23566	broad.mit.edu	37	1	85331338	85331338	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:85331338C>T	ENST00000440886.1	-	1	504	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Missense_Mutation_p.A156T			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	156					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ATAAAAATGGCGATGGCCCAG	0.542		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)											141	147	145			NA	NA	1		NA											NA				85331338		2203	4300	6503	SO:0001583	missense			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517	23566	23566		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	14298	protein-coding gene	gene with protein product		605106	endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7	EDG7	NA	10488122	Standard	NM_012152	NM_012152	NA	Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.466G>A	1.37:g.85331338C>T	ENSP00000395389:p.Ala156Thr	NA	A0AVA3	37	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512109	0.64522	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.41758	0.99;0.99	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.050820	0.85682	D	0.000000	T	0.57344	0.2047	M	0.86740	2.835	0.49798	D	0.999824	D	0.63046	0.992	P	0.53490	0.727	T	0.67703	-0.5602	10	0.87932	D	0	.	19.0389	0.92991	0.0:1.0:0.0:0.0	.	156	Q9UBY5	LPAR3_HUMAN	T	156	ENSP00000395389:A156T;ENSP00000359643:A156T	ENSP00000359643:A156T	A	-	1	0	LPAR3	85103926	1.000000	0.71417	0.995000	0.50966	0.363000	0.29612	6.295000	0.72744	2.501000	0.84356	0.655000	0.94253	GCC	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027467.1		-	ENST00000440886.1	Missense_Mutation	SNP	1 : 85331338 - 85331338 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	844	8
LPP	4026	broad.mit.edu	37	3	188592235	188592235	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:188592235G>T	ENST00000312675.4	+	11	2053	c.1807G>T	c.(1807-1809)Gtg>Ttg	p.V603L	LPP_ENST00000543006.1_Missense_Mutation_p.V603L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	603	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCGCATCAGGGTGTTGACCGC	0.512		NA	T	HMGA2, MLL, C12orf9	lipoma, leukemia									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		L, M	0													119	108	112			NA	NA	3		NA											NA				188592235		2203	4300	6503	SO:0001583	missense			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012	4026	4026			6679	protein-coding gene	gene with protein product		600700	LIM domain-containing preferred translocation partner in lipoma		NA	8812423	Standard	NM_005578	XM_005247453	NA	Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1807G>T	3.37:g.188592235G>T	ENSP00000318089:p.Val603Leu	NA	A1L4L6|D3DNV6|Q8NFX5	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384829	0.61956	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.54675	0.56;0.56	5.79	4.92	0.64577	Zinc finger, LIM-type (1);	0.173178	0.51477	D	0.000096	T	0.41971	0.1182	L	0.29908	0.895	0.33682	D	0.612234	B;B	0.25955	0.003;0.138	B;B	0.25987	0.003;0.065	T	0.53012	-0.8498	10	0.37606	T	0.19	.	13.6926	0.62556	0.0737:0.0:0.9263:0.0	.	456;603	B7Z8W0;Q93052	.;LPP_HUMAN	L	603	ENSP00000318089:V603L;ENSP00000438891:V603L	ENSP00000318089:V603L	V	+	1	0	LPP	190074929	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	8.025000	0.88777	1.444000	0.47605	0.655000	0.94253	GTG	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344030.1		+	ENST00000312675.4	Missense_Mutation	SNP	3 : 188592235 - 188592235 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	526	23
LSM2	57819	broad.mit.edu	37	6	31765568	31765568	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:31765568G>A	ENST00000375661.5	-	5	480	c.254C>T	c.(253-255)gCg>gTg	p.A85V	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	85					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						CTTCCTTGCCGCATCCTGTAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	226	223			NA	NA	6		NA											NA				31765568		1511	2708	4219	SO:0001583	missense			AF182288	CCDS4722.1	6p21.3	2010-02-17	2003-02-17	2003-02-21	ENSG00000204392	ENSG00000204392	57819	57819			13940	protein-coding gene	gene with protein product		607282	chromosome 6 open reading frame 28	C6orf28	NA	10523320, 8428774	Standard	NM_021177	NM_021177	NA	Approved	G7b, YBL026W	uc003nxg.3	Q9Y333	OTTHUMG00000031121	ENST00000375661.5:c.254C>T	6.37:g.31765568G>A	ENSP00000364813:p.Ala85Val	NA		37	CCDS4722.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013900	0.93404	.	.	ENSG00000204392	ENST00000375661	T	0.43688	0.94	5.61	5.61	0.85477	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.50109	0.631	T	0.39683	-0.9602	9	0.54805	T	0.06	-12.3752	17.1255	0.86713	0.0:0.0:1.0:0.0	.	85	Q9Y333	LSM2_HUMAN	V	85	ENSP00000364813:A85V	ENSP00000364813:A85V	A	-	2	0	LSM2	31873547	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	8.768000	0.91737	2.659000	0.90383	0.491000	0.48974	GCG	LSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076205.2		-	ENST00000375661.5	Missense_Mutation	SNP	6 : 31765568 - 31765568 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	941	7
LTB4R	1241	broad.mit.edu	37	14	24785056	24785056	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:24785056G>A	ENST00000396789.4	+	2	1924	c.199G>A	c.(199-201)Gta>Ata	p.V67I	LTB4R_ENST00000345363.3_Missense_Mutation_p.V67I|LTB4R_ENST00000396782.2_Missense_Mutation_p.V67I	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGACCTGGCCGTATTGCTCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	182	190			NA	NA	14		NA											NA				24785056		2203	4300	6503	SO:0001583	missense			X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903	1241	1241		GPCR / Class A : Leukotriene receptors	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1	NA	8921391, 8702478	Standard		NM_181657	NA	Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.199G>A	14.37:g.24785056G>A	ENSP00000380008:p.Val67Ile	NA	Q13305|Q53XV5|Q92641|Q9BSU5	37	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670154	0.67814	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.89	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.078141	0.49916	U	0.000133	T	0.66406	0.2786	L	0.61036	1.89	0.20074	N	0.999932	P	0.38504	0.634	B	0.32864	0.154	T	0.57266	-0.7841	10	0.35671	T	0.21	.	9.8439	0.41015	0.0766:0.1405:0.783:0.0	.	67	Q15722	LT4R1_HUMAN	I	67	ENSP00000450457:V67I;ENSP00000307445:V67I;ENSP00000380008:V67I;ENSP00000380002:V67I	ENSP00000307445:V67I	V	+	1	0	LTB4R	23854896	0.949000	0.32298	0.017000	0.16124	0.931000	0.56810	3.183000	0.50918	0.819000	0.34492	0.655000	0.94253	GTA	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073198.4		+	ENST00000396789.4	Missense_Mutation	SNP	14 : 24785056 - 24785056 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	869	7
MCM6	4175	broad.mit.edu	37	2	136615535	136615535	+	Missense_Mutation	SNP	G	G	A	rs138808270		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136615535G>A	ENST00000264156.2	-	10	1462	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	468	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ACTTGATCCCGCACGTCCATC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(196;141 2104 8848 24991 25939)							NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	277	226	243		1402	2.6	1	2	dbSNP_134	243	0,8600		0,0,4300	no	missense	MCM6	NM_005915.4	101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	468/822	136615535	1,13005	2203	4300	6503	SO:0001583	missense				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003	4175	4175			6949	protein-coding gene	gene with protein product	MIS5 homolog (S.pombe)	601806	minichromosome maintenance deficient (mis5, S. pombe) 6, MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae), minichromosome maintenance deficient 6 homolog (S. cerevisiae)		NA		Standard	NM_005915	NM_005915	NA	Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1402C>T	2.37:g.136615535G>A	ENSP00000264156:p.Arg468Trp	NA	B2R6H2|Q13504|Q99859	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906911	0.72868	2.27E-4	0.0	ENSG00000076003	ENST00000264156	T	0.07021	3.23	5.68	2.57	0.30868	.	0.090508	0.64402	D	0.000001	T	0.23926	0.0579	M	0.73598	2.24	0.54753	D	0.999987	D	0.76494	0.999	D	0.70227	0.968	T	0.00722	-1.1594	10	0.87932	D	0	-9.4893	9.1095	0.36718	0.0764:0.0:0.5305:0.3931	.	468	Q14566	MCM6_HUMAN	W	468	ENSP00000264156:R468W	ENSP00000264156:R468W	R	-	1	2	MCM6	136332005	1.000000	0.71417	0.975000	0.42487	0.965000	0.64279	2.518000	0.45537	0.738000	0.32606	0.561000	0.74099	CGG	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254658.1		-	ENST00000264156.2	Missense_Mutation	SNP	2 : 136615535 - 136615535 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	733	6
MTO1	25821	broad.mit.edu	37	6	74171682	74171682	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:74171682G>A	ENST00000498286.1	+	1	382	c.105G>A	c.(103-105)ccG>ccA	p.P35P	MTO1_ENST00000370300.4_Silent_p.P35P|MTO1_ENST00000370305.1_Intron|MTO1_ENST00000415954.2_Silent_p.P35P			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	35					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CCCGGACTCCGCACTTCGACG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	79	79			NA	NA	6		NA											NA				74171682		2203	4300	6503	SO:0001819	synonymous_variant			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297	25821	25821			19261	protein-coding gene	gene with protein product		614667	mitochondrial translation optimization 1 homolog (S. cerevisiae)		NA	12011058, 22608499	Standard	NM_012123	NM_012123	NA	Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000498286.1:c.105G>A	6.37:g.74171682G>A		NA	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	37	CCDS34485.1																																																																																			MTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041213.3		+	ENST00000498286.1	Silent	SNP	6 : 74171682 - 74171682 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	702	6
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	96			NA	NA	19		NA											NA				9090831		2041	4195	6236	SO:0001819	synonymous_variant			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1																																																																																			MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Silent	SNP	19 : 9090831 - 9090831 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	347	4
MUC17	140453	broad.mit.edu	37	7	100683951	100683951	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:100683951C>T	ENST00000306151.4	+	3	9318	c.9254C>T	c.(9253-9255)tCa>tTa	p.S3085L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3085	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3085*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	lung(1)											261	259	260			NA	NA	7		NA											NA				100683951		2203	4300	6503	SO:0001583	missense			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876	140453	140453		Mucins	16800	protein-coding gene	gene with protein product		608424			NA	11855812	Standard	NM_001040105	NM_001040105	NA	Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9254C>T	7.37:g.100683951C>T	ENSP00000302716:p.Ser3085Leu	NA	O14761|Q685J2|Q8TDH7	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	8.482	0.859960	0.17178	.	.	ENSG00000169876	ENST00000306151	T	0.02301	4.35	1.18	1.18	0.20946	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	0.09310	N	1	P	0.48350	0.909	P	0.48704	0.587	T	0.51973	-0.8637	9	0.25106	T	0.35	.	8.4028	0.32597	0.0:1.0:0.0:0.0	.	3085	Q685J3	MUC17_HUMAN	L	3085	ENSP00000302716:S3085L	ENSP00000302716:S3085L	S	+	2	0	MUC17	100470671	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.146000	0.16180	0.986000	0.38683	0.121000	0.15741	TCA	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347161.1		+	ENST00000306151.4	Missense_Mutation	SNP	7 : 100683951 - 100683951 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1524	80
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	89	84			NA	NA	11		NA											NA				281566		2203	4299	6502	SO:0001583	missense			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885	171389	171389		Nucleotide-binding domain and leucine rich repeat containing	22944	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6	609650	NACHT, leucine rich repeat and PYD containing 6	NALP6	NA	12563287, 12019269	Standard	NM_138329	NM_138329	NA	Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000534750.1:c.1832A>G	11.37:g.281566A>G	ENSP00000433617:p.Glu611Gly	NA	A8K9F3	37		.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG	NLRP6-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000385707.1		+	ENST00000534750.1	Missense_Mutation	SNP	11 : 281566 - 281566 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	795	6
NR2F1	7025	broad.mit.edu	37	5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	338					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGTCGGATGCGGCCCACATC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	79	76			NA	NA	5		NA											NA				92929289		2203	4300	6503	SO:0001583	missense			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745	7025	7025		Nuclear hormone receptors	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1	NA	8530078	Standard	NM_005654	NM_005654	NA	Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1013C>T	5.37:g.92929289C>T	ENSP00000325819:p.Ala338Val	NA		37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761144	0.15914	.	.	ENSG00000175745	ENST00000327111	D	0.96365	-3.99	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.360994	0.30219	N	0.010135	D	0.90013	0.6882	N	0.02842	-0.48	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	D	0.84686	0.0720	10	0.16420	T	0.52	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	338	P10589	COT1_HUMAN	V	338	ENSP00000325819:A338V	ENSP00000325819:A338V	A	+	2	0	NR2F1	92955045	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	2.198000	0.42705	2.941000	0.99782	0.655000	0.94253	GCG	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239293.2		+	ENST00000327111.3	Missense_Mutation	SNP	5 : 92929289 - 92929289 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	682	6
NRAP	4892	broad.mit.edu	37	10	115374632	115374632	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:115374632T>A	ENST00000359988.3	-	28	3396	c.3152A>T	c.(3151-3153)cAa>cTa	p.Q1051L	NRAP_ENST00000360478.3_Missense_Mutation_p.Q1016L|NRAP_ENST00000369358.4_Missense_Mutation_p.Q1059L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q1024L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1051						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTTGCTGCTTGGAATGGAAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	148	155			NA	NA	10		NA											NA				115374632		2203	4300	6503	SO:0001583	missense				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893	4892	4892			7988	protein-coding gene	gene with protein product		602873			NA	12789664, 10320340	Standard	NM_006175	NM_006175	NA	Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3152A>T	10.37:g.115374632T>A	ENSP00000353078:p.Gln1051Leu	NA	O15500|Q5VWI3|Q5VWI4|Q6MZK3|Q6N026|Q6N059|Q6NSH8|Q6PDB0|Q719H6|Q86TC5|Q86TD6|Q86TE6|Q86VF6|Q8N3R6|Q8N8F9|Q8TCH0|Q96MG4	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582432	0.65992	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.66	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53249	1.67	0.42674	D	0.993527	D;D;P	0.89917	1.0;1.0;0.743	D;D;P	0.91635	0.999;0.999;0.798	T	0.54984	-0.8211	10	0.40728	T	0.16	.	11.6035	0.51017	0.0:0.0697:0.0:0.9303	.	1051;1016;1051	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	L	1059;1024;1051;1016	ENSP00000358365:Q1059L;ENSP00000358367:Q1024L;ENSP00000353078:Q1051L;ENSP00000353666:Q1016L	ENSP00000353078:Q1051L	Q	-	2	0	NRAP	115364622	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.562000	0.60816	0.972000	0.38314	0.533000	0.62120	CAA	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050425.2		-	ENST00000359988.3	Missense_Mutation	SNP	10 : 115374632 - 115374632 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	279	8
PANX1	24145	broad.mit.edu	37	11	93913034	93913034	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:93913034G>A	ENST00000227638.3	+	4	1197	c.812G>A	c.(811-813)gGc>gAc	p.G271D	PANX1_ENST00000436171.2_Missense_Mutation_p.G271D	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	271					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATTGCCGTGGGCATCTTCCAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													315	270	285			NA	NA	11		NA											NA				93913034		2201	4298	6499	SO:0001583	missense			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218	24145	24145		Ion channels / Pannexins	8599	protein-coding gene	gene with protein product	innexin	608420			NA	14597722	Standard	NM_015368	NM_015368	NA	Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.812G>A	11.37:g.93913034G>A	ENSP00000227638:p.Gly271Asp	NA	O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	37	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102161	0.76983	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.19669	2.13;2.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.49341	-0.8950	10	0.52906	T	0.07	-36.6712	19.9882	0.97356	0.0:0.0:1.0:0.0	.	271;271	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	D	271	ENSP00000227638:G271D;ENSP00000411461:G271D	ENSP00000227638:G271D	G	+	2	0	PANX1	93552682	1.000000	0.71417	0.906000	0.35671	0.256000	0.26092	7.453000	0.80700	2.824000	0.97209	0.655000	0.94253	GGC	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396121.1		+	ENST00000227638.3	Missense_Mutation	SNP	11 : 93913034 - 93913034 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	778	6
PCDHGB4	8641	broad.mit.edu	37	5	140768992	140768992	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:140768992C>T	ENST00000519479.1	+	1	1541	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			protocadherin gamma subfamily B, 4	NA										endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGTTCGCGCAGCGCGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	53	51			NA	NA	5		NA											NA				140768992		2044	4181	6225	SO:0001583	missense			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953	8641	8641		Cadherins / Protocadherins : Clustered	8711	other	protocadherin	fibroblast cadherin FIB2, cadherin 20	603058			NA	10380929	Standard	NM_003736	NM_003736	NA	Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1541C>T	5.37:g.140768992C>T	ENSP00000428288:p.Ala514Val	NA		37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	35	5.443208	0.96187	.	.	ENSG00000253953	ENST00000519479	T	0.43294	0.95	4.95	4.95	0.65309	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.54498	0.1862	L	0.31578	0.945	0.38208	D	0.940379	D;D	0.89917	0.994;1.0	P;D	0.79108	0.89;0.992	T	0.62364	-0.6870	9	0.87932	D	0	.	18.196	0.89822	0.0:1.0:0.0:0.0	.	514;514	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	514	ENSP00000428288:A514V	ENSP00000428288:A514V	A	+	2	0	PCDHGB4	140749176	0.314000	0.24563	1.000000	0.80357	0.974000	0.67602	1.731000	0.38135	2.446000	0.82766	0.563000	0.77884	GCG	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374745.1		+	ENST00000519479.1	Missense_Mutation	SNP	5 : 140768992 - 140768992 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	488	13
PLD5	200150	broad.mit.edu	37	1	242451663	242451663	+	Splice_Site	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:242451663C>T	ENST00000536534.2	-	3	737		c.e3+1		PLD5_ENST00000442594.2_Splice_Site|PLD5_ENST00000427495.1_Splice_Site			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	NA						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATGTAGCTTACCTGACATGCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	142	150			NA	NA	1		NA											NA				242451663		2203	4300	6503	SO:0001630	splice_region_variant			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287	200150	200150			26879	protein-coding gene	gene with protein product					NA		Standard	NM_152666	NM_001195811	NA	Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.495+1G>A	1.37:g.242451663C>T		NA	A1KXV0|B7Z324|Q494U9|Q8NB22	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307958	0.60305	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9007	0.63802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLD5	240518286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.399000	0.66314	2.134000	0.65973	0.591000	0.81541	.	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397213.2	Intron	-	ENST00000536534.2	Splice_Site	SNP	1 : 242451663 - 242451663 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	626	27
PRKCB	5579	broad.mit.edu	37	16	24104167	24104167	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:24104167C>T	ENST00000482000.1	+	0	57				PRKCB_ENST00000321728.7_Silent_p.Y195Y|PRKCB_ENST00000303531.7_Silent_p.Y195Y			P05771	KPCB_HUMAN	protein kinase C, beta	NA					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGATCCCTACGTAAAACTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	149	156			NA	NA	16		NA											NA				24104167		2197	4300	6497	SO:0001624	3_prime_UTR_variant			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	5579	5579	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	protein kinase C, beta 1	PRKCB2, PKCB, PRKCB1	NA	3658678	Standard	NM_212535	NM_002738	NA	Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000482000.1:c.*54C>T	16.37:g.24104167C>T		NA	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	37																																																																																				PRKCB-006	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000268353.1		+	ENST00000482000.1	3'UTR	SNP	16 : 24104167 - 24104167 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	485	33
PRKCG	5582	broad.mit.edu	37	19	54392899	54392899	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:54392899G>A	ENST00000263431.3	+	4	575	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	98					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAGGACCCCCGGAACAAACAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	50	52			NA	NA	19		NA											NA				54392899		2203	4300	6503	SO:0001583	missense			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	5582	5582	2.7.11.1		9402	protein-coding gene	gene with protein product	PKC-gamma	176980		PKCG, SCA14	NA	8432525, 3755548	Standard	NM_002739	NM_002739	NA	Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.293G>A	19.37:g.54392899G>A	ENSP00000263431:p.Arg98Gln	NA		37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574096	0.65765	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.84370	-1.84;-1.84;-1.84	4.54	4.54	0.55810	.	.	.	.	.	D	0.82499	0.5050	M	0.74881	2.28	0.80722	D	1	P;B;P;P	0.43701	0.769;0.425;0.815;0.679	B;B;B;B	0.33121	0.149;0.066;0.111;0.158	D	0.84896	0.0839	9	0.45353	T	0.12	.	15.2147	0.73254	0.0:0.0:1.0:0.0	.	98;98;98;98	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	Q	98;98;98;121	ENSP00000440541:R98Q;ENSP00000443493:R98Q;ENSP00000263431:R98Q	ENSP00000263431:R98Q	R	+	2	0	PRKCG	59084711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.634000	0.61325	2.260000	0.74910	0.644000	0.83932	CGG	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139233.3		+	ENST00000263431.3	Missense_Mutation	SNP	19 : 54392899 - 54392899 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	248	9
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:43411250G>A	ENST00000402603.4	-	4	874	c.785C>T	c.(784-786)gCg>gTg	p.A262V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V					pregnancy specific beta-1-glycoprotein 6	NA										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	196	192			NA	NA	19		NA											NA				43411250		2201	4299	6500	SO:0001583	missense				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848	5675	5675		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9523	protein-coding gene	gene with protein product		176395			NA	1690992	Standard	NM_002782	NM_002782	NA	Approved			Q00889	OTTHUMG00000151127	ENST00000402603.4:c.785C>T	19.37:g.43411250G>A	ENSP00000385736:p.Ala262Val	NA		37		.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG	PSG6-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321437.2		-	ENST00000402603.4	Missense_Mutation	SNP	19 : 43411250 - 43411250 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1177	7
PTCH2	8643	broad.mit.edu	37	1	45307637	45307637	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:45307637G>A	ENST00000372192.3	-	2	277	c.147C>T	c.(145-147)tgC>tgT	p.C49C	PTCH2_ENST00000447098.2_Silent_p.C49C	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	49					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.C49C(1)		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)					TCTGGATCCCGCATCCCAGAG	0.557		NA							Basal Cell Nevus syndrome					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)											113	112	112			NA	NA	1		NA											NA				45307637		2203	4300	6503	SO:0001819	synonymous_variant	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.147C>T	1.37:g.45307637G>A		NA	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	37	CCDS516.1																																																																																			PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023428.4		-	ENST00000372192.3	Silent	SNP	1 : 45307637 - 45307637 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	678	7
QDPR	5860	broad.mit.edu	37	4	17493886	17493886	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:17493886G>A	ENST00000281243.5	-	5	693	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	QDPR_ENST00000508623.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.P141S|QDPR_ENST00000513615.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	172					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GCCCCGGGCGGCATGCCGCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	40	39			NA	NA	4		NA											NA				17493886		2203	4300	6503	SO:0001583	missense			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	5860	5860	1.5.1.34	Short chain dehydrogenase/reductase superfamily / Atypical members	9752	protein-coding gene	gene with protein product	6,7-dihydropteridine reductase, short chain dehydrogenase/reductase family 33C, member 1	612676			NA	19027726	Standard	NM_000320	NM_000320	NA	Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.514C>T	4.37:g.17493886G>A	ENSP00000281243:p.Pro172Ser	NA	A8K158|Q53F52|Q9H3M5	37	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156614	0.78114	.	.	ENSG00000151552	ENST00000281243;ENST00000428702	D;D	0.94457	-3.43;-3.43	5.26	5.26	0.73747	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.975	D	0.98210	1.0472	10	0.56958	D	0.05	-8.7527	17.6482	0.88154	0.0:0.0:1.0:0.0	.	141;172	B3KW71;P09417	.;DHPR_HUMAN	S	172;141	ENSP00000281243:P172S;ENSP00000390944:P141S	ENSP00000281243:P172S	P	-	1	0	QDPR	17102984	1.000000	0.71417	0.997000	0.53966	0.399000	0.30720	8.814000	0.91968	2.448000	0.82819	0.557000	0.71058	CCG	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250372.1		-	ENST00000281243.5	Missense_Mutation	SNP	4 : 17493886 - 17493886 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	339	5
RBM6	10180	broad.mit.edu	37	3	50095912	50095912	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:50095912A>G	ENST00000443081.1	+	10	2570	c.1651A>G	c.(1651-1653)Act>Gct	p.T551A	RBM6_ENST00000266022.4_Missense_Mutation_p.T683A|RBM6_ENST00000422955.1_Missense_Mutation_p.T161A|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.T25A|RBM6_ENST00000442092.1_Missense_Mutation_p.T161A			P78332	RBM6_HUMAN	RNA binding motif protein 6	683					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGTCCGCCTTACTACTGCCAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	181	185			NA	NA	3		NA											NA				50095912		2203	4300	6503	SO:0001583	missense			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534	10180	10180		RNA binding motif (RRM) containing, G patch domain containing	9903	protein-coding gene	gene with protein product		606886			NA	10352938	Standard	NM_005777	NM_001167582	NA	Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000443081.1:c.1651A>G	3.37:g.50095912A>G	ENSP00000396466:p.Thr551Ala	NA	O60549|O75524	37		.	.	.	.	.	.	.	.	.	.	A	14.05	2.420772	0.42918	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.40476	1.27;1.27;1.27;1.03;1.27	5.71	4.51	0.55191	Nucleotide-binding, alpha-beta plait (1);	0.465551	0.23487	N	0.047660	T	0.16938	0.0407	N	0.03608	-0.345	0.22199	N	0.9993	B;B	0.26935	0.139;0.164	B;B	0.28465	0.042;0.09	T	0.12889	-1.0530	9	.	.	.	-3.4384	4.6373	0.12530	0.625:0.0:0.0942:0.2808	.	551;683	E9PGM9;P78332	.;RBM6_HUMAN	A	161;683;551;25;161	ENSP00000393530:T161A;ENSP00000266022:T683A;ENSP00000396466:T551A;ENSP00000443165:T25A;ENSP00000392939:T161A	.	T	+	1	0	RBM6	50070916	0.920000	0.31207	0.993000	0.49108	0.997000	0.91878	2.437000	0.44828	2.189000	0.69895	0.529000	0.55759	ACT	RBM6-009	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000345553.2		+	ENST00000443081.1	Missense_Mutation	SNP	3 : 50095912 - 50095912 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	706	55
RBMXL2	27288	broad.mit.edu	37	11	7111053	7111053	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:7111053G>A	ENST00000306904.5	+	1	889	c.702G>A	c.(700-702)tcG>tcA	p.S234S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	234	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGCCCCCTCGCCCGGAGAGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	19	18			NA	NA	11		NA											NA				7111053		2189	4272	6461	SO:0001819	synonymous_variant			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748	27288	27288		RNA binding motif (RRM) containing	17886	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein G T	605444			NA	10958650	Standard	NM_014469	NM_014469	NA	Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.702G>A	11.37:g.7111053G>A		NA	Q6PEZ2|Q9NQU0	37	CCDS7777.1																																																																																			RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384552.1		+	ENST00000306904.5	Silent	SNP	11 : 7111053 - 7111053 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	163	11
RELN	5649	broad.mit.edu	37	7	103629780	103629780	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:103629780C>T	ENST00000428762.1	-	1	183	c.24G>A	c.(22-24)cgG>cgA	p.R8R	RELN_ENST00000343529.5_Silent_p.R8R|RELN_ENST00000424685.2_Silent_p.R8R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	8					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAAAGTCTGCCGGGCCCAGC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(146;835 1944 15585 22231 52158)							NA				0													7	9	9			NA	NA	7		NA											NA				103629780		2175	4257	6432	SO:0001819	synonymous_variant				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056	5649	5649			9957	protein-coding gene	gene with protein product		600514			NA	9049633	Standard	NM_005045	NM_005045	NA	Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.24G>A	7.37:g.103629780C>T		NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1																																																																																			RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Silent	SNP	7 : 103629780 - 103629780 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	114	4
RP1L1	94137	broad.mit.edu	37	8	10465032	10465032	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:10465032C>T	ENST00000382483.3	-	4	6799	c.6576G>A	c.(6574-6576)gaG>gaA	p.E2192E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2192					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TACCTTCTGACTCTGGCTGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	178	174			NA	NA	8		NA											NA				10465032		1880	4106	5986	SO:0001819	synonymous_variant			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638	94137	94137			15946	protein-coding gene	gene with protein product		608581			NA	12634863	Standard		NM_178857	NA	Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6576G>A	8.37:g.10465032C>T		NA		37	CCDS43708.1																																																																																			RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375673.1		-	ENST00000382483.3	Silent	SNP	8 : 10465032 - 10465032 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1571	8
RRH	10692	broad.mit.edu	37	4	110756591	110756591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:110756591C>T	ENST00000317735.4	+	3	401	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	123					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGCTGTGGACCGATACCTGAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	150	151			NA	NA	4		NA											NA				110756591		2203	4300	6503	SO:0001587	stop_gained			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245	10692	10692		GPCR / Class A : Opsin receptors	10450	protein-coding gene	gene with protein product	peropsin	605224			NA	9275222	Standard	NM_006583	NM_006583	NA	Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.367C>T	4.37:g.110756591C>T	ENSP00000314992:p.Arg123*	NA	A1A4V2|Q7RTS4	37	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341306	0.95783	.	.	ENSG00000180245	ENST00000317735	.	.	.	5.88	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1711	0.81817	0.1343:0.8657:0.0:0.0	.	.	.	.	X	123	.	ENSP00000314992:R123X	R	+	1	2	RRH	110976040	0.947000	0.32204	0.992000	0.48379	0.597000	0.36814	1.539000	0.36104	1.419000	0.47118	0.655000	0.94253	CGA	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255066.1		+	ENST00000317735.4	Nonsense_Mutation	SNP	4 : 110756591 - 110756591 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	422	31
RYR1	6261	broad.mit.edu	37	19	38948830	38948830	+	Missense_Mutation	SNP	G	G	A	rs144845360		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:38948830G>A	ENST00000355481.4	+	18	2196	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	RYR1_ENST00000360985.3_Missense_Mutation_p.E689K|RYR1_ENST00000359596.3_Missense_Mutation_p.E689K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	689	B30.2/SPRY 1.				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)	GGCCCTCACCGAGGGCTACAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	54	51	52		2065,2065	5	1	19	dbSNP_134	52	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	56,56	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	689/5039,689/5034	38948830	2,13004	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.2065G>A	19.37:g.38948830G>A	ENSP00000347667:p.Glu689Lys	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593369	0.66219	4.54E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73258	-0.73;-0.73;-0.73	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000002	T	0.76499	0.3996	L	0.46947	1.48	0.38142	D	0.938482	D;P	0.89917	1.0;0.796	D;P	0.66497	0.944;0.459	T	0.73531	-0.3953	10	0.21540	T	0.41	.	14.2501	0.66013	0.0:0.0:0.8505:0.1495	.	689;689	P21817-2;P21817	.;RYR1_HUMAN	K	689	ENSP00000352608:E689K;ENSP00000347667:E689K;ENSP00000354254:E689K	ENSP00000347667:E689K	E	+	1	0	RYR1	43640670	1.000000	0.71417	0.967000	0.41034	0.989000	0.77384	4.716000	0.61916	2.623000	0.88846	0.549000	0.68633	GAG	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38948830 - 38948830 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	503	15
SCN11A	11280	broad.mit.edu	37	3	38913712	38913712	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:38913712C>T	ENST00000302328.3	-	20	3665	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1156					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGACAGCGCACGAAGAGGCCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4406		0,0,2203	160	156	157		3467	5.5	0	3		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN11A	NM_014139.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	1156/1792	38913712	1,13005	2203	4300	6503	SO:0001583	missense			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356	11280	11280		Sodium channels, Voltage-gated ion channels / Sodium channels	10583	protein-coding gene	gene with protein product		604385	sodium channel, voltage-gated, type XI, alpha polypeptide, sodium channel, voltage-gated, type XII, alpha	SCN12A	NA	10444332, 16382098	Standard	NM_014139	NM_014139	NA	Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3467G>A	3.37:g.38913712C>T	ENSP00000307599:p.Arg1156His	NA	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691614	0.68271	0.0	1.16E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.96833	3.89	0.40458	D	0.980215	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	18.0499	0.89344	0.0:1.0:0.0:0.0	.	1156	Q9UI33	SCNBA_HUMAN	H	1156;1156;1118;1156	ENSP00000307599:R1156H;ENSP00000400945:R1156H;ENSP00000416757:R1118H;ENSP00000408028:R1156H	ENSP00000307599:R1156H	R	-	2	0	SCN11A	38888716	0.860000	0.29831	0.044000	0.18714	0.102000	0.19082	7.729000	0.84864	2.596000	0.87737	0.561000	0.74099	CGT	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109746.4		-	ENST00000302328.3	Missense_Mutation	SNP	3 : 38913712 - 38913712 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	703	8
SEZ6L	23544	broad.mit.edu	37	22	26693012	26693012	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:26693012C>T	ENST00000360929.3	+	4	1284	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000248933.6_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000343706.4_Silent_p.D376D	NM_001184776.1	NP_001171705.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	376	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.D376D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTCCAGGACGACGGCCTTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)						C	,,,,,	0,4406		0,0,2203	49	43	45		1128,1128,1128,1128,1128,1128	-10.5	0	22		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,,	376/1024,376/1014,376/1012,376/950,376/949,376/1025	26693012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095	23544	23544			10763	protein-coding gene	gene with protein product		607021	seizure related gene 6 (mouse)-like		NA		Standard		NM_021115	NA	Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000360929.3:c.1128C>T	22.37:g.26693012C>T		NA	A0AUW7|B0QYG4|B0QYG5|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	37	CCDS54511.1																																																																																			SEZ6L-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320356.2		+	ENST00000360929.3	Silent	SNP	22 : 26693012 - 26693012 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	220	5
SMTN	6525	broad.mit.edu	37	22	31487093	31487093	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:31487093G>A	ENST00000358743.1	+	10	1302	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SMTN_ENST00000333137.7_Missense_Mutation_p.A362T|SMTN_ENST00000347557.2_Missense_Mutation_p.A362T	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	362					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTGACCCCCGCAAGGCTCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	68	67			NA	NA	22		NA											NA				31487093		2203	4300	6503	SO:0001583	missense			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963	6525	6525			11126	protein-coding gene	gene with protein product		602127			NA	9244445, 8707825	Standard	NM_134270	NM_006932	NA	Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000358743.1:c.1084G>A	22.37:g.31487093G>A	ENSP00000351593:p.Ala362Thr	NA	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	37	CCDS13887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.013|0.013	-1.609457|-1.609457	0.00842|0.00842	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000404496|ENST00000329852	T;T;T|.	0.66280|.	0.22;-0.2;-0.2|.	5.05|5.05	-5.64|-5.64	0.02466|0.02466	.|.	1.909230|.	0.03177|.	N|.	0.171509|.	T|T	0.23572|0.23572	0.0570|0.0570	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999994|0.999994	B;B;B;B;B;B|.	0.09022|.	0.002;0.001;0.001;0.001;0.001;0.001|.	B;B;B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001;0.001;0.001|.	T|T	0.30090|0.30090	-0.9990|-0.9990	10|6	0.10111|0.36615	T|T	0.7|0.2	0.8384|0.8384	13.1595|13.1595	0.59537|0.59537	0.7419:0.0:0.2581:0.0|0.7419:0.0:0.2581:0.0	.|.	418;416;354;362;362;362|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	T|H	362;362;362;354|361	ENSP00000351593:A362T;ENSP00000328635:A362T;ENSP00000329532:A362T|.	ENSP00000329532:A362T|ENSP00000329393:R361H	A|R	+|+	1|2	0|0	SMTN|SMTN	29817093|29817093	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	-0.828000|-0.828000	0.04419|0.04419	-1.197000|-1.197000	0.02673|0.02673	-0.658000|-0.658000	0.03865|0.03865	GCA|CGC	SMTN-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321768.1		+	ENST00000358743.1	Missense_Mutation	SNP	22 : 31487093 - 31487093 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	571	7
SPATA31A6	389730	broad.mit.edu	37	9	43625214	43625214	+	Missense_Mutation	SNP	T	T	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:43625214T>G	ENST00000332857.6	-	4	3501	c.3473A>C	c.(3472-3474)cAc>cCc	p.H1158P		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6	NA											NA						TTCTCCAAAGTGGCTTACTGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	201	201			NA	NA	9		NA											NA				43625214		644	1569	2213	SO:0001583	missense				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775	389730	389730			32006	protein-coding gene	gene with protein product			family with sequence similarity 75, member A6	FAM75A6	NA	20850414	Standard	NM_001145196	NM_001145196	NA	Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3473A>C	9.37:g.43625214T>G	ENSP00000329825:p.His1158Pro	NA		37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959430	0.02267	.	.	ENSG00000185775	ENST00000332857	T	0.03524	3.9	2.44	-4.88	0.03113	.	2.897470	0.01221	N	0.008105	T	0.02970	0.0088	L	0.33245	0.995	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.39461	-0.9613	10	0.31617	T	0.26	5.4555	0.2508	0.00205	0.3484:0.2161:0.2341:0.2014	.	1158	Q5VVP1	F75A6_HUMAN	P	1158	ENSP00000329825:H1158P	ENSP00000329825:H1158P	H	-	2	0	FAM75A6	43565210	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.137000	0.00588	-2.971000	0.00286	-0.585000	0.04130	CAC	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036987.1		-	ENST00000332857.6	Missense_Mutation	SNP	9 : 43625214 - 43625214 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	444	8
SPEF2	79925	broad.mit.edu	37	5	35793392	35793392	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:35793392G>A	ENST00000440995.2	+	32	4671	c.4671G>A	c.(4669-4671)aaG>aaA	p.K1557K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.K359K|SPEF2_ENST00000356031.3_Silent_p.K1562K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1562					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGTTCAAGGCTGTGGATA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	99	99			NA	NA	5		NA											NA				35793392		1981	4176	6157	SO:0001819	synonymous_variant			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582	79925	79925			26293	protein-coding gene	gene with protein product	cancer/testis antigen 122	610172			NA	11214970, 16549801, 17610085	Standard	NM_144722	NM_024867	NA	Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000440995.2:c.4671G>A	5.37:g.35793392G>A		NA	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	37																																																																																				SPEF2-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367203.1		+	ENST00000440995.2	Silent	SNP	5 : 35793392 - 35793392 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	316	8
ST18	9705	broad.mit.edu	37	8	53028835	53028835	+	Splice_Site	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:53028835C>A	ENST00000276480.7	-	25	3686	c.3003G>T	c.(3001-3003)atG>atT	p.M1001I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1001						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGAACTTACCATCTGTGGAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	156	169			NA	NA	8		NA											NA				53028835		2203	4300	6503	SO:0001630	splice_region_variant			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488	9705	9705		Zinc fingers, C2HC-type containing	18695	protein-coding gene	gene with protein product	neural zinc finger transcription factor 3		zinc finger protein 387, suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	ZNF387	NA	15489893	Standard		NM_014682	NA	Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3003+1G>T	8.37:g.53028835C>A		NA	Q17RY1	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363299	0.95877	.	.	ENSG00000147488	ENST00000276480	T	0.49139	0.79	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.68317	2.08	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.67995	-0.5526	10	0.54805	T	0.06	-22.9673	20.0735	0.97734	0.0:1.0:0.0:0.0	.	1001	O60284	ST18_HUMAN	I	1001	ENSP00000276480:M1001I	ENSP00000276480:M1001I	M	-	3	0	ST18	53191388	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.764000	0.85297	2.745000	0.94114	0.655000	0.94253	ATG	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377867.1	Missense_Mutation	-	ENST00000276480.7	Splice_Site	SNP	8 : 53028835 - 53028835 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	398	12
STAB1	23166	broad.mit.edu	37	3	52548769	52548769	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:52548769G>A	ENST00000321725.6	+	35	3807	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1244	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCTGGCCGCTCGCTGATT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	65	63			NA	NA	3		NA											NA				52548769		2203	4300	6503	SO:0001583	missense			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327	23166	23166			18628	protein-coding gene	gene with protein product	MS-1 antigen, fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1, common lymphatic endothelial and vascular endothelial receptor-1	608560			NA	11829752, 12077138	Standard	NM_015136	XM_005264973	NA	Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3731G>A	3.37:g.52548769G>A	ENSP00000312946:p.Arg1244His	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551298	0.45383	.	.	ENSG00000010327	ENST00000321725	D	0.84944	-1.92	5.72	3.94	0.45596	FAS1 domain (3);	0.314687	0.33631	N	0.004717	T	0.69043	0.3067	N	0.22421	0.69	0.09310	N	1	P	0.45634	0.863	B	0.31016	0.123	T	0.62358	-0.6871	10	0.48119	T	0.1	-9.0658	8.7596	0.34667	0.162:0.0:0.838:0.0	.	1244	Q9NY15	STAB1_HUMAN	H	1244	ENSP00000312946:R1244H	ENSP00000312946:R1244H	R	+	2	0	STAB1	52523809	0.560000	0.26570	0.393000	0.26258	0.829000	0.46940	1.856000	0.39389	0.780000	0.33566	0.561000	0.74099	CGC	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52548769 - 52548769 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	489	6
TADA2B	93624	broad.mit.edu	37	4	7056454	7056454	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:7056454G>A	ENST00000310074.7	+	2	1125	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TADA2B_ENST00000515646.1_Silent_p.R220R|TADA2B_ENST00000512388.1_Silent_p.R237R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R312R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGGCAGCGCGGCATAAACGGG	0.557		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)											57	67	63			NA	NA	4		NA											NA				7056454		2035	4181	6216	SO:0001819	synonymous_variant			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011	93624	93624			30781	protein-coding gene	gene with protein product		608790			NA	12972612, 18936164	Standard	NM_152293	NM_152293	NA	Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.936G>A	4.37:g.7056454G>A		NA	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	37	CCDS47007.1																																																																																			TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358687.2		+	ENST00000310074.7	Silent	SNP	4 : 7056454 - 7056454 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	316	5
TAF1L	138474	broad.mit.edu	37	9	32632378	32632378	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:32632378G>A	ENST00000242310.4	-	1	3289	c.3200C>T	c.(3199-3201)gCc>gTc	p.A1067V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1067					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	p.A1067V(1)		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)		TGATCCACGGGCAAATTTACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											178	178	178			NA	NA	9		NA											NA				32632378		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.3200C>T	9.37:g.32632378G>A	ENSP00000418379:p.Ala1067Val	NA	Q0VG57	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750747	0.89753	.	.	ENSG00000122728	ENST00000242310	T	0.18810	2.19	0.479	0.479	0.16796	.	0.097880	0.64402	D	0.000001	T	0.41858	0.1177	M	0.82823	2.61	0.58432	D	0.999997	D	0.76494	0.999	D	0.76071	0.987	T	0.32241	-0.9914	10	0.72032	D	0.01	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1067	Q8IZX4	TAF1L_HUMAN	V	1067	ENSP00000418379:A1067V	ENSP00000418379:A1067V	A	-	2	0	TAF1L	32622378	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	5.867000	0.69597	0.507000	0.28148	0.195000	0.17529	GCC	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052012.2		-	ENST00000242310.4	Missense_Mutation	SNP	9 : 32632378 - 32632378 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	734	8
TAP1	6890	broad.mit.edu	37	6	32820252	32820252	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:32820252C>T	ENST00000354258.4	-	2	967	c.806G>A	c.(805-807)gGc>gAc	p.G269D	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.G8D	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	269	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGTGAGGCGGCCCGTAAAGAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	93	95			NA	NA	6		NA											NA				32820252		1510	2707	4217	SO:0001583	missense				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394	6890	6890		ATP binding cassette transporters / subfamily B	43	protein-coding gene	gene with protein product		170260		ABCB2	NA	1529427, 1946428	Standard	NM_000593	NM_000593	NA	Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.806G>A	6.37:g.32820252C>T	ENSP00000346206:p.Gly269Asp	NA	Q16149|Q96CP4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195941	0.78902	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.91407	-2.84;-2.84	4.78	4.78	0.61160	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.870577	0.09721	N	0.764435	D	0.95592	0.8567	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94207	0.7455	10	0.87932	D	0	-17.1129	15.3702	0.74557	0.0:1.0:0.0:0.0	.	269	Q03518	TAP1_HUMAN	D	269;8	ENSP00000346206:G269D;ENSP00000401919:G8D	ENSP00000346206:G269D	G	-	2	0	TAP1	32928230	1.000000	0.71417	0.830000	0.32933	0.412000	0.31113	6.583000	0.74053	2.470000	0.83445	0.551000	0.68910	GGC	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076087.2		-	ENST00000354258.4	Missense_Mutation	SNP	6 : 32820252 - 32820252 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	327	6
THRA	7067	broad.mit.edu	37	17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:38245543G>A	ENST00000450525.2	+	9	1558	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000264637.4_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCAACCACCGCAAACACAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													257	196	217			NA	NA	17		NA											NA				38245543		2203	4300	6503	SO:0001583	missense			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351	7067	7067		Nuclear hormone receptors	11796	protein-coding gene	gene with protein product		190120	thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog), thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)	THRA1, THRA2, ERBA1	NA	6323162, 6589608	Standard		NM_003250	NA	Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000450525.2:c.1067G>A	17.37:g.38245543G>A	ENSP00000395641:p.Arg356His	NA	A8K3B5|P21205|Q8N6A1|Q96H73	37	CCDS42316.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648442	0.87958	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	L	0.56396	1.775	0.80722	D	1	D;D;D	0.65815	0.991;0.971;0.995	P;P;P	0.58620	0.806;0.842;0.659	D	0.96930	0.9680	10	0.52906	T	0.07	.	16.1444	0.81555	0.0:0.0:1.0:0.0	.	356;356;356	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	356	ENSP00000377679:R356H;ENSP00000264637:R356H;ENSP00000395641:R356H;ENSP00000443972:R356H	ENSP00000264637:R356H	R	+	2	0	THRA	35499069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.520000	0.81821	2.319000	0.78375	0.424000	0.28305	CGC	THRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257161.1		+	ENST00000450525.2	Missense_Mutation	SNP	17 : 38245543 - 38245543 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	967	6
TLK2	11011	broad.mit.edu	37	17	60689888	60689888	+	Missense_Mutation	SNP	T	T	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:60689888T>G	ENST00000582809.1	+	23	2471	c.1768T>G	c.(1768-1770)Tca>Gca	p.S590A	TLK2_ENST00000326270.9_Missense_Mutation_p.S761A|TLK2_ENST00000346027.5_Missense_Mutation_p.S739A|TLK2_ENST00000542523.1_Missense_Mutation_p.S707A|TLK2_ENST00000343388.7_Missense_Mutation_p.S707A			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	761	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TGCTATTGCATCAACCTCTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	63	67			NA	NA	17		NA											NA				60689888		2203	4300	6503	SO:0001583	missense			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18					11011	11011			11842	protein-coding gene	gene with protein product		608439			NA	9427565, 10523312	Standard	NM_006852	NM_006852	NA	Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000582809.1:c.1768T>G	17.37:g.60689888T>G	ENSP00000463595:p.Ser590Ala	NA	D3DU07|Q9UKI7|Q9Y4F7	37		.	.	.	.	.	.	.	.	.	.	T	5.315	0.243429	0.10077	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.65549	-0.13;-0.16;-0.14;-0.16	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.055808	0.85682	D	0.000000	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	P;P;P;P	0.47910	0.841;0.902;0.902;0.841	P;P;P;P	0.60236	0.746;0.871;0.871;0.746	T	0.53535	-0.8425	10	0.02654	T	1	.	15.3837	0.74681	0.0:0.0:0.0:1.0	.	761;707;739;739	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	A	739;707;761;707	ENSP00000275780:S739A;ENSP00000340800:S707A;ENSP00000316512:S761A;ENSP00000442311:S707A	ENSP00000316512:S761A	S	+	1	0	TLK2	58043620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.231000	0.72958	0.459000	0.35465	TCA	TLK2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445133.1		+	ENST00000582809.1	Missense_Mutation	SNP	17 : 60689888 - 60689888 G PAAD-TCGA-US-A774-Tumor-SM-4WPAA	298	14
TNFRSF19	55504	broad.mit.edu	37	13	24242948	24242948	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:24242948C>T	ENST00000382263.3	+	9	1141	c.957C>T	c.(955-957)aaC>aaT	p.N319N	TNFRSF19_ENST00000382258.4_Silent_p.N319N|TNFRSF19_ENST00000403372.2_Silent_p.N187N|TNFRSF19_ENST00000248484.4_Silent_p.N319N	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	319					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTGGTGACAACATCTCTTTTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	158	161			NA	NA	13		NA											NA				24242948		2203	4300	6503	SO:0001819	synonymous_variant			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863	55504	55504		Tumor necrosis factor receptor superfamily	11915	protein-coding gene	gene with protein product	toxicity and JNK inducer	606122			NA	10764796, 10809768	Standard	NM_018647	NM_018647	NA	Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382263.3:c.957C>T	13.37:g.24242948C>T		NA	B1AM40|B1AM41|Q9BXZ9|Q9BY00|Q9NZV2	37	CCDS9301.1																																																																																			TNFRSF19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044157.2		+	ENST00000382263.3	Silent	SNP	13 : 24242948 - 24242948 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	732	38
TP53	7157	broad.mit.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:7578404A>C	ENST00000420246.2	-	5	658	c.526T>G	c.(526-528)Tgc>Ggc	p.C176G	TP53_ENST00000445888.2_Missense_Mutation_p.C176G|TP53_ENST00000413465.2_Missense_Mutation_p.C176G|TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176G|TP53_ENST00000269305.4_Missense_Mutation_p.C176G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTGGGGGCAGCGCCTCACA	0.647		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	80	Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	breast(18)|haematopoietic_and_lymphoid_tissue(13)|oesophagus(10)|upper_aerodigestive_tract(8)|large_intestine(8)|stomach(4)|lung(4)|liver(4)|bone(4)|central_nervous_system(3)|ovary(2)|biliary_tract(1)|prostate(1)											49	49	49			NA	NA	17		NA											NA				7578404		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.526T>G	17.37:g.7578404A>C	ENSP00000391127:p.Cys176Gly	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725152	0.89298	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.971;0.983;0.996;0.995;0.977;0.994	D;D;D;D;D;D;D	0.87578	0.998;0.977;0.982;0.998;0.988;0.973;0.996	D	0.96412	0.9305	10	0.87932	D	0	-18.1821	14.037	0.64651	1.0:0.0:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176G;ENSP00000352610:C176G;ENSP00000269305:C176G;ENSP00000398846:C176G;ENSP00000391127:C176G;ENSP00000391478:C176G;ENSP00000425104:C44G;ENSP00000423862:C83G	ENSP00000269305:C176G	C	-	1	0	TP53	7519129	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	TGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578404 - 7578404 C PAAD-TCGA-US-A774-Tumor-SM-4WPAA	426	12
TPO	7173	broad.mit.edu	37	2	1480921	1480921	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:1480921G>A	ENST00000345913.4	+	8	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	TPO_ENST00000346956.3_Missense_Mutation_p.A295T|TPO_ENST00000382201.3_Missense_Mutation_p.A295T|TPO_ENST00000337415.3_Missense_Mutation_p.A295T|TPO_ENST00000329066.4_Missense_Mutation_p.A295T|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	295					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTTCGGCCGCCTGCGGCAC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	14	13			NA	NA	2		NA											NA				1480921		2192	4275	6467	SO:0001583	missense				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	7173	7173	1.11.1.7		12015	protein-coding gene	gene with protein product		606765			NA		Standard	NM_000547	NM_175722	NA	Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.883G>A	2.37:g.1480921G>A	ENSP00000318820:p.Ala295Thr	NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521755	0.44866	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.99	4.11	0.48088	.	0.223965	0.45606	D	0.000357	T	0.68696	0.3029	M	0.62154	1.92	0.80722	D	1	P;P;P	0.52692	0.955;0.885;0.906	P;B;P	0.47891	0.543;0.311;0.56	T	0.70174	-0.4944	10	0.45353	T	0.12	-20.3944	13.6977	0.62589	0.0756:0.0:0.9244:0.0	.	295;295;295	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	T	295;295;295;295;295;224	ENSP00000337263:A295T;ENSP00000318820:A295T;ENSP00000263886:A295T;ENSP00000329869:A295T;ENSP00000371636:A295T;ENSP00000405788:A224T	ENSP00000329869:A295T	A	+	1	0	TPO	1459928	0.326000	0.24669	0.607000	0.28956	0.013000	0.08279	3.117000	0.50407	1.089000	0.41292	0.460000	0.39030	GCC	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Missense_Mutation	SNP	2 : 1480921 - 1480921 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	131	11
TTC17	55761	broad.mit.edu	37	11	43429013	43429013	+	Silent	SNP	A	A	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:43429013A>T	ENST00000039989.4	+	15	1964	c.1950A>T	c.(1948-1950)ccA>ccT	p.P650P	TTC17_ENST00000299240.6_Silent_p.P650P|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	650							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATTTAGCTCCACTTCAATACC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	107	114			NA	NA	11		NA											NA				43429013		2203	4300	6503	SO:0001819	synonymous_variant			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841	55761	55761		Tetratricopeptide (TTC) repeat domain containing	25596	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018259	NM_018259	NA	Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1950A>T	11.37:g.43429013A>T		NA		37	CCDS31466.1																																																																																			TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389577.2		+	ENST00000039989.4	Silent	SNP	11 : 43429013 - 43429013 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	263	16
TUBB3	10381	broad.mit.edu	37	16	90001998	90001998	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:90001998G>A	ENST00000556922.1	+	5	2274	c.2180G>A	c.(2179-2181)cGc>cAc	p.R727H	TUBB3_ENST00000554444.1_Missense_Mutation_p.R308H|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Missense_Mutation_p.R380H|TUBB3_ENST00000304984.5_Missense_Mutation_p.R308H			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	380					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTGTTCAAGCGCATCTCCGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	119	122			NA	NA	16		NA											NA				90001998		2198	4298	6496	SO:0001583	missense			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211	10381	10381		Tubulins	20772	protein-coding gene	gene with protein product	class III beta-tubulin	602661	tubulin, beta 3, fibrosis of extraocular muscles, congenital, 3	FEOM3	NA	9473684, 8098743, 20074521	Standard	NM_006086	NM_006086	NA	Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000556922.1:c.2180G>A	16.37:g.90001998G>A	ENSP00000451560:p.Arg727His	NA	Q9BTZ0|Q9BW10	37		.	.	.	.	.	.	.	.	.	.	G	18.61	3.661407	0.67700	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.66	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000021	D	0.93331	0.7874	M	0.93375	3.41	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.95184	0.8302	9	.	.	.	.	17.5117	0.87762	0.0:0.0:1.0:0.0	.	380;380	Q13509;B2RBD5	TBB3_HUMAN;.	H	727;380;308;308;380	ENSP00000451560:R727H;ENSP00000302777:R308H;ENSP00000451617:R308H;ENSP00000320295:R380H	.	R	+	2	0	RP11-566K11.2;TUBB3	88529499	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.585000	0.98223	2.313000	0.78055	0.561000	0.74099	CGC	TUBB3-001	NOVEL	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412002.1		+	ENST00000556922.1	Missense_Mutation	SNP	16 : 90001998 - 90001998 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	955	6
UBB	7314	broad.mit.edu	37	17	16285638	16285638	+	Silent	SNP	G	G	A	rs144617200		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:16285638G>A	ENST00000395837.1	+	2	598	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.K139K|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(163;1126 3406 34901)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315	7314	7314			12463	protein-coding gene	gene with protein product	polyubiquitin B	191339			NA	2154095	Standard	NM_018955	NM_018955	NA	Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.417G>A	17.37:g.16285638G>A		NA	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	37	CCDS11177.1																																																																																			UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130459.1		+	ENST00000395837.1	Silent	SNP	17 : 16285638 - 16285638 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	463	5
UGT2B28	54490	broad.mit.edu	37	4	70146575	70146575	+	Missense_Mutation	SNP	T	T	A	rs145538643		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146575T>A	ENST00000335568.5	+	1	359	c.357T>A	c.(355-357)ttT>ttA	p.F119L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.F119L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	119					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGTGGGAATTTCATGACATAT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	86	81			NA	NA	4		NA											NA				70146575		2016	4226	6242	SO:0001583	missense			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226	54490	54490		UDP glucuronosyltransferases	13479	protein-coding gene	gene with protein product		606497	UDP glycosyltransferase 2 family, polypeptide B28		NA	11300766	Standard	NM_053039	NM_053039	NA	Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.357T>A	4.37:g.70146575T>A	ENSP00000334276:p.Phe119Leu	NA	B5BUM0|Q9BY62|Q9BY63	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	4.904	0.168064	0.09339	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.60040	0.22;0.22	2.18	0.897	0.19258	.	0.991766	0.08185	N	0.984814	T	0.45657	0.1353	L	0.52206	1.635	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.30909	-0.9962	10	0.27082	T	0.32	.	3.031	0.06107	0.2465:0.0:0.2526:0.5009	.	119;119	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	L	119	ENSP00000334276:F119L;ENSP00000427399:F119L	ENSP00000334276:F119L	F	+	3	2	UGT2B28	70181164	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.503000	0.06383	0.114000	0.18032	-1.436000	0.01078	TTT	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251557.2		+	ENST00000335568.5	Missense_Mutation	SNP	4 : 70146575 - 70146575 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	439	6
UGT2B28	54490	broad.mit.edu	37	4	70146576	70146576	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146576C>T	ENST00000335568.5	+	1	360	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	UGT2B28_ENST00000511240.1_Missense_Mutation_p.H120Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	120					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTGGGAATTTCATGACATATT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	86	80			NA	NA	4		NA											NA				70146576		2010	4223	6233	SO:0001583	missense			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226	54490	54490		UDP glucuronosyltransferases	13479	protein-coding gene	gene with protein product		606497	UDP glycosyltransferase 2 family, polypeptide B28		NA	11300766	Standard	NM_053039	NM_053039	NA	Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.358C>T	4.37:g.70146576C>T	ENSP00000334276:p.His120Tyr	NA	B5BUM0|Q9BY62|Q9BY63	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.541551	0.00142	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.60920	0.15;0.15	2.18	-1.25	0.09405	.	15.001300	0.02204	N	0.062507	T	0.31796	0.0808	N	0.12502	0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38779	-0.9645	10	0.02654	T	1	.	1.664	0.02798	0.161:0.1153:0.1648:0.5589	.	120;120	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	Y	120	ENSP00000334276:H120Y;ENSP00000427399:H120Y	ENSP00000334276:H120Y	H	+	1	0	UGT2B28	70181165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.102000	0.03332	-2.976000	0.00284	-4.988000	0.00002	CAT	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251557.2		+	ENST00000335568.5	Missense_Mutation	SNP	4 : 70146576 - 70146576 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	441	6
UGT2B28	54490	broad.mit.edu	37	4	70146857	70146857	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	213					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGGTAAAAAACATGATCTATG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	72	71			NA	NA	4		NA											NA				70146857		2027	4227	6254	SO:0001819	synonymous_variant			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226	54490	54490		UDP glucuronosyltransferases	13479	protein-coding gene	gene with protein product		606497	UDP glycosyltransferase 2 family, polypeptide B28		NA	11300766	Standard	NM_053039	NM_053039	NA	Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.639C>T	4.37:g.70146857C>T		NA	B5BUM0|Q9BY62|Q9BY63	37	CCDS3528.1																																																																																			UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251557.2		+	ENST00000335568.5	Silent	SNP	4 : 70146857 - 70146857 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	297	7
UGT2B28	54490	broad.mit.edu	37	4	70146870	70146870	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146870C>A	ENST00000335568.5	+	1	654	c.652C>A	c.(652-654)Ctt>Att	p.L218I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.L218I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	218					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATCTATGTGCTTTATTTTGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	69	67			NA	NA	4		NA											NA				70146870		2032	4227	6259	SO:0001583	missense			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226	54490	54490		UDP glucuronosyltransferases	13479	protein-coding gene	gene with protein product		606497	UDP glycosyltransferase 2 family, polypeptide B28		NA	11300766	Standard	NM_053039	NM_053039	NA	Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.652C>A	4.37:g.70146870C>A	ENSP00000334276:p.Leu218Ile	NA	B5BUM0|Q9BY62|Q9BY63	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	5.407	0.260353	0.10239	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.72505	-0.66;-0.66	2.18	0.143	0.14820	.	0.335796	0.24254	U	0.040145	T	0.62332	0.2419	L	0.56769	1.78	0.09310	N	1	B;B	0.24368	0.102;0.031	B;B	0.32724	0.113;0.151	T	0.52946	-0.8507	10	0.36615	T	0.2	.	5.4611	0.16617	0.0:0.5448:0.0:0.4552	.	218;218	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	I	218	ENSP00000334276:L218I;ENSP00000427399:L218I	ENSP00000334276:L218I	L	+	1	0	UGT2B28	70181459	0.000000	0.05858	0.029000	0.17559	0.094000	0.18550	-1.487000	0.02310	-0.148000	0.11234	0.184000	0.17185	CTT	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251557.2		+	ENST00000335568.5	Missense_Mutation	SNP	4 : 70146870 - 70146870 A PAAD-TCGA-US-A774-Tumor-SM-4WPAA	303	5
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	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-A774-Tumor-SM-4WPAA	719	6
ZCCHC9	84240	broad.mit.edu	37	5	80607084	80607084	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:80607084A>C	ENST00000254037.2	+	4	3838	c.683A>C	c.(682-684)gAa>gCa	p.E228A	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E228A|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E228A|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E228A			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	228							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GATTGCCCTGAAAGTCAGAAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	271	265			NA	NA	5		NA											NA				80607084		2203	4300	6503	SO:0001583	missense			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732	84240	84240		Zinc fingers, CCHC domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25424	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 41				NA	12477932	Standard	NM_032280	NM_032280	NA	Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.683A>C	5.37:g.80607084A>C	ENSP00000254037:p.Glu228Ala	NA	B2RAE7|Q9H027	37	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016841	0.75161	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.32	5.32	0.75619	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.149315	0.64402	D	0.000016	T	0.57636	0.2067	M	0.76838	2.35	0.58432	D	0.99999	B	0.34103	0.437	B	0.41666	0.363	T	0.62129	-0.6919	10	0.56958	D	0.05	-18.5656	15.2491	0.73529	1.0:0.0:0.0:0.0	.	228	Q8N567	ZCHC9_HUMAN	A	228	ENSP00000254037:E228A;ENSP00000385047:E228A;ENSP00000369546:E228A;ENSP00000412637:E228A	ENSP00000254037:E228A	E	+	2	0	ZCCHC9	80642840	1.000000	0.71417	0.020000	0.16555	0.983000	0.72400	5.943000	0.70211	2.153000	0.67306	0.528000	0.53228	GAA	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239213.1		+	ENST00000254037.2	Missense_Mutation	SNP	5 : 80607084 - 80607084 C PAAD-TCGA-US-A774-Tumor-SM-4WPAA	1039	6
ZNF536	9745	broad.mit.edu	37	19	31038886	31038886	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:31038886C>T	ENST00000355537.3	+	4	2507	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	787					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A787D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGACTATGCCGGCACGCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											65	68	67			NA	NA	19		NA											NA				31038886		2203	4300	6503	SO:0001583	missense				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597	9745	9745		Zinc fingers, C2H2-type	29025	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014717	XM_005259445	NA	Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2360C>T	19.37:g.31038886C>T	ENSP00000347730:p.Ala787Val	NA	A2RU18	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372690	0.82573	.	.	ENSG00000198597	ENST00000355537	T	0.13778	2.56	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25332	0.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01218	-1.1415	10	0.72032	D	0.01	-31.1218	20.6721	0.99693	0.0:1.0:0.0:0.0	.	787;787	A7E228;O15090	.;ZN536_HUMAN	V	787	ENSP00000347730:A787V	ENSP00000347730:A787V	A	+	2	0	ZNF536	35730726	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.481000	0.81124	2.894000	0.99253	0.591000	0.81541	GCC	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459667.2		+	ENST00000355537.3	Missense_Mutation	SNP	19 : 31038886 - 31038886 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	542	6
ZP2	7783	broad.mit.edu	37	16	21209136	21209136	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:21209136G>T	ENST00000574002.1	-	19	2528	c.2046C>A	c.(2044-2046)agC>agA	p.S682R	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.S682R|ZP2_ENST00000574091.1_Missense_Mutation_p.S673R			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	682					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCTCCCCACTGCTCCCACTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	160	172			NA	NA	16		NA											NA				21209136		2200	4300	6500	SO:0001583	missense			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310	7783	7783		Zona pellucida glycoproteins	13188	protein-coding gene	gene with protein product		182888			NA	8385033	Standard		XM_005255562	NA	Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2046C>A	16.37:g.21209136G>T	ENSP00000460971:p.Ser682Arg	NA	B2R7J2|Q4VAN9|Q4VAP0	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146585	0.21288	.	.	ENSG00000103310	ENST00000219593	T	0.76060	-0.99	4.26	-5.44	0.02624	.	17.585600	0.00496	N	0.000144	T	0.50888	0.1642	N	0.08118	0	0.09310	N	1	B;B	0.29432	0.244;0.148	B;B	0.26969	0.075;0.035	T	0.42716	-0.9435	10	0.30854	T	0.27	25.2756	6.89	0.24224	0.7005:0.0:0.1658:0.1337	.	673;682	Q4VAP1;Q05996	.;ZP2_HUMAN	R	682	ENSP00000219593:S682R	ENSP00000219593:S682R	S	-	3	2	ZP2	21116637	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.272000	0.08560	-1.035000	0.03291	0.563000	0.77884	AGC	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207365.2		-	ENST00000574002.1	Missense_Mutation	SNP	16 : 21209136 - 21209136 T PAAD-TCGA-US-A774-Tumor-SM-4WPAA	776	49
